Variant Details

Variant: esv3585393

Internal ID

6972917

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:19285930..19287667	hg38	UCSC Ensembl
Inner	chr1:19285934..19287664	hg38	UCSC Ensembl
Outer	chr1:19285927..19287671	hg38	UCSC Ensembl
	chr1:19612424..19614161	hg19	UCSC Ensembl
Inner	chr1:19612428..19614158	hg19	UCSC Ensembl
Outer	chr1:19612421..19614165	hg19	UCSC Ensembl

Cytoband

1p36.13

Allele length

Assembly	Allele length
hg38	1738
hg19	1738

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv9878983, essv9878959, essv9878956, essv9878967, essv9878994, essv9878965, essv9878958, essv9878946, essv9878976, essv9878975, essv9878960, essv9878989, essv9878972, essv9878969, essv9878961, essv9878944, essv9878955, essv9878974, essv9878962, essv9878964, essv9878951, essv9878968, essv9878982, essv9878993, essv9878949, essv9878988, essv9878950, essv9878990, essv9878985, essv9878948, essv9878980, essv9878977, essv9878992, essv9878957, essv9878981, essv9878979, essv9878986, essv9878973, essv9878963, essv9878966, essv9878984, essv9878970, essv9878987, essv9878991, essv9878971, essv9878953, essv9878945, essv9878954, essv9878947, essv9878978, essv9878952

Samples

HG01985, NA19222, NA19204, HG03175, HG02798, HG02476, HG03297, HG03139, NA19374, NA19307, HG02549, NA19404, NA19137, HG02461, NA20340, NA19235, HG02427, NA19209, NA19445, HG03343, HG01882, HG01879, HG03428, NA19461, HG02429, NA18879, NA19042, NA19113, HG02666, NA19452, NA18523, NA18858, HG01956, HG02772, HG02455, NA19834, HG02721, NA19144, HG03473, HG02814, HG03103, NA19117, HG02974, HG02768, NA19096, NA18876, NA19213, HG03162, HG03303, HG02343, HG03439

Known Genes

AKR7A3

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3585393

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	51
Observed Complex	0
Frequency	n/a