Variant Details

Variant: esv3589037

Internal ID

6976453

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:227654800..227655294	hg38	UCSC Ensembl
Inner	chr1:227654800..227655294	hg38	UCSC Ensembl
Outer	chr1:227654344..227655692	hg38	UCSC Ensembl
	chr1:227842501..227842995	hg19	UCSC Ensembl
Inner	chr1:227842501..227842995	hg19	UCSC Ensembl
Outer	chr1:227842045..227843393	hg19	UCSC Ensembl

Cytoband

1q42.13

Allele length

Assembly	Allele length
hg38	495
hg19	495

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv10312325, essv10312302, essv10312318, essv10312316, essv10312309, essv10312273, essv10312311, essv10312323, essv10312278, essv10312291, essv10312307, essv10312314, essv10312293, essv10312300, essv10312333, essv10312305, essv10312277, essv10312267, essv10312279, essv10312287, essv10312270, essv10312326, essv10312298, essv10312285, essv10312286, essv10312297, essv10312301, essv10312272, essv10312288, essv10312324, essv10312290, essv10312275, essv10312306, essv10312322, essv10312269, essv10312303, essv10312320, essv10312331, essv10312284, essv10312266, essv10312265, essv10312304, essv10312289, essv10312276, essv10312329, essv10312296, essv10312280, essv10312268, essv10312313, essv10312312, essv10312271, essv10312315, essv10312328, essv10312317, essv10312295, essv10312308, essv10312299, essv10312274, essv10312334, essv10312321, essv10312294, essv10312310, essv10312319, essv10312332, essv10312282, essv10312327, essv10312283, essv10312292, essv10312281, essv10312330

Samples

HG01060, HG01965, HG00524, NA18980, HG01815, HG02275, HG02078, HG02017, NA18596, HG02394, HG02384, HG02356, HG02285, HG01809, NA19005, HG00589, NA19764, NA18995, HG00736, HG01982, HG02786, HG03830, NA18749, HG04183, HG01455, HG00867, HG01046, NA18748, NA18617, HG01950, HG02260, NA18975, NA18640, HG02164, HG00464, HG02047, HG01183, NA18613, HG01248, HG01595, HG00701, HG01796, HG01073, HG01161, NA19059, HG02292, HG02081, HG00864, NA18634, NA18974, NA18543, HG01954, NA18564, HG03708, HG02304, NA19090, HG01977, HG01951, NA18629, HG01974, HG01342, HG00446, HG02396, HG00728, HG01807, HG00759, HG01927, HG01923, HG00437, NA18965

Known Genes

ZNF678

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3589037

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	70
Observed Complex	0
Frequency	n/a