A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593350



Internal ID6980674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171570303..171570954hg38UCSC Ensembl
Innerchr2:171570353..171570904hg38UCSC Ensembl
Outerchr2:171570181..171571076hg38UCSC Ensembl
chr2:172426813..172427464hg19UCSC Ensembl
Innerchr2:172426863..172427414hg19UCSC Ensembl
Outerchr2:172426691..172427586hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10758161
SamplesNA20508
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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