A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10522132



Internal ID2230256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62321969..62350706hg38UCSC Ensembl
Innerchr2:62321969..62350706hg38UCSC Ensembl
Outerchr2:62321469..62351206hg38UCSC Ensembl
chr2:62549104..62577841hg19UCSC Ensembl
Innerchr2:62549104..62577841hg19UCSC Ensembl
Outerchr2:62548604..62578341hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3828738
hg1928738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591038
Supporting Variants
SamplesHG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10522132
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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