Variant Details

Variant: esv3585395

Internal ID

6625714

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:19320693..19321848	hg38	UCSC Ensembl
Inner	chr1:19320694..19321848	hg38	UCSC Ensembl
Outer	chr1:19320693..19321849	hg38	UCSC Ensembl
	chr1:19647187..19648342	hg19	UCSC Ensembl
Inner	chr1:19647188..19648342	hg19	UCSC Ensembl
Outer	chr1:19647187..19648343	hg19	UCSC Ensembl

Cytoband

1p36.13

Allele length

Assembly	Allele length
hg38	1156
hg19	1156

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9879028, essv9879107, essv9879201, essv9879023, essv9879203, essv9879102, essv9879058, essv9879051, essv9879164, essv9879169, essv9879047, essv9879206, essv9879124, essv9879042, essv9879207, essv9879196, essv9879130, essv9879138, essv9879167, essv9879197, essv9879077, essv9879182, essv9879159, essv9879129, essv9879068, essv9879020, essv9879057, essv9879105, essv9879150, essv9879080, essv9879063, essv9879049, essv9879125, essv9879104, essv9879154, essv9879145, essv9879062, essv9879015, essv9879025, essv9879139, essv9879078, essv9879079, essv9879027, essv9879103, essv9879067, essv9879091, essv9879002, essv9879052, essv9879096, essv9879030, essv9879110, essv9879178, essv9879142, essv9879156, essv9879055, essv9879089, essv9879173, essv9879118, essv9879204, essv9879146, essv9879177, essv9879147, essv9879029, essv9879088, essv9879171, essv9879095, essv9879014, essv9879190, essv9879006, essv9879191, essv9879175, essv9879061, essv9879120, essv9879024, essv9879003, essv9879084, essv9879026, essv9879013, essv9879193, essv9879126, essv9879144, essv9879054, essv9879200, essv9879076, essv9879036, essv9879136, essv9879005, essv9879195, essv9879060, essv9879114, essv9879053, essv9879183, essv9879166, essv9879121, essv9879065, essv9879059, essv9879021, essv9879108, essv9879092, essv9879101, essv9879066, essv9879050, essv9879011, essv9879073, essv9879008, essv9879163, essv9879093, essv9879071, essv9879094, essv9879085, essv9879010, essv9879143, essv9879192, essv9879202, essv9879179, essv9879117, essv9879072, essv9879022, essv9879170, essv9879135, essv9879075, essv9879070, essv9879018, essv9879141, essv9879157, essv9879098, essv9879127, essv9879038, essv9879116, essv9879035, essv9879039, essv9879037, essv9879115, essv9879086, essv9879149, essv9879109, essv9879199, essv9879186, essv9879046, essv9879153, essv9879140, essv9879087, essv9879168, essv9879004, essv9879007, essv9879069, essv9879090, essv9879048, essv9879210, essv9879081, essv9879074, essv9879152, essv9879083, essv9879009, essv9879205, essv9879082, essv9879045, essv9879033, essv9879031, essv9879012, essv9879128, essv9879189, essv9879017, essv9879097, essv9879180, essv9879099, essv9879043, essv9879132, essv9879131, essv9879162, essv9879041, essv9879151, essv9879174, essv9879111, essv9879187, essv9879198, essv9879064, essv9879176, essv9879106, essv9879160, essv9879165, essv9879123, essv9879034, essv9879044, essv9879119, essv9879148, essv9879040, essv9879161, essv9879184, essv9879194, essv9879155, essv9879133, essv9879019, essv9879056, essv9879208, essv9879172, essv9879209, essv9879158, essv9879122, essv9879181, essv9879100, essv9879016, essv9879188, essv9879185, essv9879137, essv9879134, essv9879112, essv9879032, essv9879113

Samples

HG03096, HG03559, HG02944, HG02610, HG02496, NA18924, HG01462, NA19204, NA18861, HG03175, HG03111, HG03517, HG03247, NA19704, NA18507, NA18881, HG02419, HG02012, HG00640, HG01806, HG02870, HG03298, HG03280, NA20294, NA19355, NA20298, NA18878, HG03100, HG03295, HG03126, HG03518, NA20346, HG02888, HG03372, NA18510, HG03095, HG03082, HG03464, NA19171, HG02621, NA19319, NA19201, HG02811, NA18489, HG03499, NA20320, HG02485, HG02325, NA18923, HG02840, NA20317, HG03485, HG02620, NA19131, HG03246, NA19023, NA19457, HG03224, HG03040, HG02816, HG01393, NA20291, HG02981, HG03209, HG02562, HG03460, HG01069, HG02703, NA19383, NA18874, HG03268, NA18868, NA19137, NA19372, NA19238, HG02885, NA19235, HG03195, NA19026, HG03225, HG02946, NA19239, HG03073, HG03058, HG02623, HG03055, NA18908, HG03114, HG02882, NA18867, NA20318, NA19200, HG03048, HG02879, HG02819, HG02943, HG01183, HG02570, NA19908, HG03160, HG03132, HG01360, HG03363, NA19707, NA18934, HG01384, NA19175, HG02582, HG03291, HG02449, HG01879, NA19043, NA19236, HG03457, NA18915, HG01989, NA18910, NA18871, HG03081, HG02014, HG02968, HG01880, HG03027, HG02497, HG02537, HG01889, HG03124, HG02757, HG03294, HG01092, HG03472, NA19449, HG03382, HG02577, HG03078, NA18912, HG02309, HG03024, NA20282, HG03451, HG02979, NA19257, HG03046, HG02585, HG01890, NA19225, HG01286, HG02332, NA19625, HG01990, NA19035, HG03567, HG02255, NA19017, NA19308, HG02613, HG02667, NA19108, HG03461, NA19256, NA19149, HG02799, HG02010, HG01894, HG02721, NA19435, NA19037, NA20351, HG01174, NA19835, HG03259, HG03469, HG02941, NA19467, HG03103, HG03084, HG02771, NA20357, NA19223, HG03066, HG02938, NA19713, HG03063, HG03060, HG01089, NA19185, HG03351, HG02768, HG02676, NA18873, HG02679, HG01817, HG03401, HG01105, HG01883, NA19121, HG02947, NA19129, HG03376, HG02851, HG02805, NA19463, HG02284, HG03118, HG03129, NA19214, HG03166, HG03265, HG03196

Known Genes

PQLC2

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585395

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	209
Observed Complex	0
Frequency	n/a