Variant Details

Variant: esv3638233

Internal ID

7025019

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:23643115..23645270	hg38	UCSC Ensembl
Inner	chr16:23643615..23644770	hg38	UCSC Ensembl
Outer	chr16:23642115..23646270	hg38	UCSC Ensembl
	chr16:23654436..23656591	hg19	UCSC Ensembl
Inner	chr16:23654936..23656091	hg19	UCSC Ensembl
Outer	chr16:23653436..23657591	hg19	UCSC Ensembl

Cytoband

16p12.2

Allele length

Assembly	Allele length
hg38	2156
hg19	2156

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv15426955, essv15426979, essv15426957, essv15426985, essv15426977, essv15426956, essv15426968, essv15426975, essv15426984, essv15426954, essv15426940, essv15426939, essv15426942, essv15426944, essv15426960, essv15426964, essv15426950, essv15426963, essv15426973, essv15426972, essv15426966, essv15426981, essv15426949, essv15426974, essv15426943, essv15426945, essv15426952, essv15426948, essv15426962, essv15426953, essv15426959, essv15426978, essv15426969, essv15426980, essv15426983, essv15426970, essv15426958, essv15426951, essv15426941, essv15426967, essv15426982, essv15426961, essv15426971, essv15426946, essv15426947, essv15426965, essv15426976

Samples

HG02386, HG00235, HG01850, HG01815, HG00306, NA19057, HG02382, NA18625, HG00177, HG02153, HG00272, NA18597, NA18558, HG00330, NA18618, HG01816, HG03917, NA18611, NA18977, HG00325, NA18748, HG02178, HG02134, HG00543, NA18544, NA18613, HG00657, HG03928, HG01029, NA18566, HG00324, HG01870, HG00331, HG00613, HG00321, HG01842, HG00376, NA18608, HG01812, NA18632, HG00672, HG00614, HG00421, HG02392, HG00280, NA18624, HG00362

Known Genes

DCTN5

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3638233

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	47
Observed Complex	0
Frequency	n/a