A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892692



Internal ID19183512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76192114..76295393hg38UCSC Ensembl
Outerchr2:76192114..76295393hg38UCSC Ensembl
Innerchr2:76419240..76522519hg19UCSC Ensembl
Outerchr2:76419240..76522519hg19UCSC Ensembl
Innerchr2:76272748..76376027hg18UCSC Ensembl
Outerchr2:76272748..76376027hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38103280
hg19103280
hg18103280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787950
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892692
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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