A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10519567



Internal ID1922695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61427196..61440572hg38UCSC Ensembl
Innerchr2:61427268..61440500hg38UCSC Ensembl
Outerchr2:61427124..61440644hg38UCSC Ensembl
chr2:61654331..61667707hg19UCSC Ensembl
Innerchr2:61654403..61667635hg19UCSC Ensembl
Outerchr2:61654259..61667779hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3813377
hg1913377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591018
Supporting Variants
SamplesHG01797
Known GenesUSP34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10519567
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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