A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10561697



Internal ID3735326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82606723..82612074hg38UCSC Ensembl
Innerchr2:82606723..82612074hg38UCSC Ensembl
Outerchr2:82606669..82612115hg38UCSC Ensembl
chr2:82833847..82839198hg19UCSC Ensembl
Innerchr2:82833847..82839198hg19UCSC Ensembl
Outerchr2:82833793..82839239hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385352
hg195352
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591478
Supporting Variants
SamplesHG03369
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10561697
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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