A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3893020

Internal ID

18837154

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:46381584..46704811	hg38	UCSC Ensembl
Outer	chr17:46206205..46704811	hg38	UCSC Ensembl
Inner	chr17:44458950..44782177	hg19	UCSC Ensembl
Outer	chr17:44283571..44782177	hg19	UCSC Ensembl
Inner	chr17:41814370..42137359	hg18	UCSC Ensembl
Outer	chr17:41639348..42137359	hg18	UCSC Ensembl

Cytoband

17q21.31

Allele length

Assembly	Allele length
hg38	498607
hg19	498607
hg18	498012

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25789474, essv25791044, essv25791933, essv25791638, essv25791018, essv25791161, essv25790984, essv25792426, essv25791051, essv25791534, essv25790270, essv25792119, essv25790973, essv25791737, essv25791134, essv25791503, essv25791612, essv25791370, essv25790998, essv25791068, essv25788840, essv25791793, essv25791403, essv25792475, essv25791033, essv25790616, essv25790117, essv25792715, essv25791907, essv25791195, essv25792726, essv25791038, essv25791950, essv25791332, essv25791277, essv25790986, essv25791085, essv25792208, essv25791768, essv25792511, essv25790116, essv25791254, essv25790944, essv25791164, essv25791286, essv25790221, essv25790968, essv25792466, essv25791511, essv25791288, essv25791430, essv25791782, essv25790170, essv25791207, essv25788958, essv25791436, essv25790396, essv25791785, essv25790381, essv25792221, essv25790856, essv25791126, essv25791759, essv25792153, essv25790485, essv25792175, essv25791472, essv25791582, essv25789850, essv25789663, essv25790238

Samples

Known Genes

ARL17A, ARL17B, KANSL1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1

Method

SNP array

Analysis

Platform

Illumina HumanHap 610

Comments

Reference

Suktitipat_et_al_2014

Pubmed ID

Accession Number(s)

Frequency

Sample Size	3017
Observed Gain	71
Observed Loss	0
Observed Complex	0
Frequency	n/a