A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10791412



Internal ID2991281
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593694
Supporting Variants
SamplesHG02643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10791412
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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