A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587506



Internal ID541356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94785167..94787858hg38UCSC Ensembl
Innerchr2:94785169..94787857hg38UCSC Ensembl
Outerchr2:94785166..94787860hg38UCSC Ensembl
chr2:95450912..95453603hg19UCSC Ensembl
Innerchr2:95450914..95453602hg19UCSC Ensembl
Outerchr2:95450911..95453605hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382692
hg192692
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591655
Supporting Variants
SamplesHG00236
Known GenesANKRD20A8P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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