A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594839



Internal ID6982158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241733021..241747498hg38UCSC Ensembl
Innerchr2:241733037..241747483hg38UCSC Ensembl
Outerchr2:241733006..241747514hg38UCSC Ensembl
chr2:242672436..242686913hg19UCSC Ensembl
Innerchr2:242672452..242686898hg19UCSC Ensembl
Outerchr2:242672421..242686929hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3814478
hg1914478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10894910
SamplesHG01806
Known GenesD2HGDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594839
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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