A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591018



Internal ID6978346
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10519567
SamplesHG01797
Known GenesUSP34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591018
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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