A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3892553

Internal ID

19183373

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:62186513..62276894	hg38	UCSC Ensembl
Outer	chr14:62167862..62322229	hg38	UCSC Ensembl
Inner	chr14:62653231..62743612	hg19	UCSC Ensembl
Outer	chr14:62634580..62788947	hg19	UCSC Ensembl
Inner	chr14:61722984..61813365	hg18	UCSC Ensembl
Outer	chr14:61704333..61858700	hg18	UCSC Ensembl

Cytoband

14q23.2

Allele length

Assembly	Allele length
hg38	154368
hg19	154368
hg18	154368

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

essv25790820, essv25789107, essv25789048, essv25788682, essv25788462, essv25789904, essv25790211, essv25791388, essv25789418

Samples

Known Genes

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	9
Observed Loss	0
Observed Complex	0
Frequency	n/a