A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10455950



Internal ID2515547
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590314
Supporting Variants
SamplesHG02232
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10455950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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