Variant Details

Variant: esv3628535

Internal ID

6668678

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:10416228..10446407	hg38	UCSC Ensembl
Inner	chr12:10416728..10445907	hg38	UCSC Ensembl
Outer	chr12:10415228..10447407	hg38	UCSC Ensembl
	chr12:10568827..10599006	hg19	UCSC Ensembl
Inner	chr12:10569327..10598506	hg19	UCSC Ensembl
Outer	chr12:10567827..10600006	hg19	UCSC Ensembl

Cytoband

12p13.2

Allele length

Assembly	Allele length
hg38	30180
hg19	30180

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14374231, essv14374209, essv14374226, essv14374198, essv14374218, essv14374266, essv14374225, essv14374220, essv14374204, essv14374199, essv14374192, essv14374240, essv14374165, essv14374177, essv14374232, essv14374182, essv14374230, essv14374243, essv14374203, essv14374258, essv14374249, essv14374214, essv14374215, essv14374164, essv14374216, essv14374206, essv14374190, essv14374173, essv14374242, essv14374169, essv14374221, essv14374252, essv14374200, essv14374264, essv14374202, essv14374176, essv14374179, essv14374208, essv14374239, essv14374270, essv14374168, essv14374219, essv14374178, essv14374193, essv14374245, essv14374167, essv14374223, essv14374212, essv14374237, essv14374171, essv14374185, essv14374205, essv14374207, essv14374201, essv14374257, essv14374234, essv14374184, essv14374246, essv14374228, essv14374213, essv14374162, essv14374210, essv14374267, essv14374260, essv14374175, essv14374247, essv14374172, essv14374256, essv14374180, essv14374263, essv14374161, essv14374229, essv14374222, essv14374272, essv14374251, essv14374174, essv14374241, essv14374181, essv14374265, essv14374244, essv14374186, essv14374166, essv14374259, essv14374224, essv14374238, essv14374271, essv14374273, essv14374254, essv14374170, essv14374187, essv14374233, essv14374211, essv14374261, essv14374189, essv14374183, essv14374235, essv14374217, essv14374253, essv14374188, essv14374197, essv14374262, essv14374236, essv14374163, essv14374255, essv14374227, essv14374196, essv14374191, essv14374248, essv14374195, essv14374269, essv14374194, essv14374250, essv14374268

Samples

HG03812, HG00881, HG02574, NA19701, HG01098, HG02250, HG02481, NA19664, HG01610, HG03052, HG00524, HG03057, HG02798, HG02804, NA19057, HG02624, HG03126, HG03577, HG03069, NA20359, NA18627, HG03074, HG03133, HG03082, HG03603, NA18940, NA18519, NA12812, HG00251, NA19201, HG02016, NA18597, HG03135, HG00173, HG04206, HG02756, NA18993, HG00330, HG01492, HG04182, HG02645, HG00851, NA12762, HG01510, HG00537, HG03826, HG00148, HG02067, HG01813, HG01198, HG00637, NA18864, HG02477, HG03048, NA20753, HG02879, NA20904, HG03132, HG00183, HG01187, HG02233, HG01871, HG02075, HG01864, HG01882, NA18939, NA19982, HG00556, HG00320, HG01810, HG02887, HG01989, HG03081, HG02497, HG01796, NA18566, HG03563, NA19000, NA19084, HG00844, NA19001, HG03024, HG02585, HG02332, HG02635, HG02586, HG03940, NA20821, NA19375, NA20799, HG00382, HG02799, HG02790, NA12272, NA18941, HG02651, HG02314, HG03259, NA19085, HG03084, HG01086, NA19078, HG01912, HG03097, HG03258, HG02676, HG00310, NA19711, HG03077, HG02763, HG02465, HG00759, HG00255

Known Genes

KLRC1, KLRC2, KLRC3

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3628535

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	113
Observed Complex	0
Frequency	n/a