A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11023262



Internal ID6385058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58813251..58852994hg38UCSC Ensembl
Innerchr3:58813251..58852994hg38UCSC Ensembl
Outerchr3:58812751..58853494hg38UCSC Ensembl
chr3:58798977..58838720hg19UCSC Ensembl
Innerchr3:58798977..58838720hg19UCSC Ensembl
Outerchr3:58798477..58839220hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3839744
hg1939744
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596258
Supporting Variants
SamplesNA20321
Known GenesC3orf67
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11023262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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