A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594837



Internal ID6635112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241687581..241688866hg38UCSC Ensembl
Innerchr2:241687634..241688814hg38UCSC Ensembl
Outerchr2:241687529..241688919hg38UCSC Ensembl
chr2:242626996..242628281hg19UCSC Ensembl
Innerchr2:242627049..242628229hg19UCSC Ensembl
Outerchr2:242626944..242628334hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10894904
SamplesHG01840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594837
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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