A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11218483



Internal ID6109507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:166956431..167033415hg38UCSC Ensembl
Innerchr3:166956434..167033413hg38UCSC Ensembl
Outerchr3:166956429..167033418hg38UCSC Ensembl
chr3:166674219..166751203hg19UCSC Ensembl
Innerchr3:166674222..166751201hg19UCSC Ensembl
Outerchr3:166674217..166751206hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3876985
hg1976985
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598556
Supporting Variants
SamplesNA19649
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11218483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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