A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593694



Internal ID6981017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:187644287..187734831hg38UCSC Ensembl
Innerchr2:187644287..187734831hg38UCSC Ensembl
Outerchr2:187643787..187735331hg38UCSC Ensembl
chr2:188509014..188599558hg19UCSC Ensembl
Innerchr2:188509014..188599558hg19UCSC Ensembl
Outerchr2:188508514..188600058hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3890545
hg1990545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10791412
SamplesHG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593694
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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