A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593905



Internal ID6634183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197293444..197295127hg38UCSC Ensembl
Innerchr2:197293460..197295112hg38UCSC Ensembl
Outerchr2:197293429..197295143hg38UCSC Ensembl
chr2:198158168..198159851hg19UCSC Ensembl
Innerchr2:198158184..198159836hg19UCSC Ensembl
Outerchr2:198158153..198159867hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381684
hg191684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10815758
SamplesHG03696
Known GenesANKRD44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593905
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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