A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10561612



Internal ID3603494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82429726..82555283hg38UCSC Ensembl
Innerchr2:82429753..82555256hg38UCSC Ensembl
Outerchr2:82429699..82555310hg38UCSC Ensembl
chr2:82656850..82782407hg19UCSC Ensembl
Innerchr2:82656877..82782380hg19UCSC Ensembl
Outerchr2:82656823..82782434hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38125558
hg19125558
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591468
Supporting Variants
SamplesHG03195
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10561612
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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