A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404057



Internal ID3912873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:7824212..7860500hg38UCSC Ensembl
Innerchr2:7824223..7860490hg38UCSC Ensembl
Outerchr2:7824202..7860511hg38UCSC Ensembl
chr2:7964343..8000631hg19UCSC Ensembl
Innerchr2:7964354..8000621hg19UCSC Ensembl
Outerchr2:7964333..8000642hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3836289
hg1936289
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589745
Supporting Variants
SamplesHG03565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404057
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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