A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590314



Internal ID6977643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:34082517..34183002hg38UCSC Ensembl
Innerchr2:34082519..34183000hg38UCSC Ensembl
Outerchr2:34082515..34183004hg38UCSC Ensembl
chr2:34307584..34408069hg19UCSC Ensembl
Innerchr2:34307586..34408067hg19UCSC Ensembl
Outerchr2:34307582..34408071hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38100486
hg19100486
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10455950
SamplesHG02232
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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