A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892648



Internal ID19183468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72026996..72043821hg38UCSC Ensembl
Outerchr2:72024621..72043821hg38UCSC Ensembl
Innerchr2:72254126..72270951hg19UCSC Ensembl
Outerchr2:72251751..72270951hg19UCSC Ensembl
Innerchr2:72107634..72124459hg18UCSC Ensembl
Outerchr2:72105259..72124459hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3819201
hg1919201
hg1819201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796852, essv25796247, essv25794348, essv25797610, essv25797072, essv25796201, essv25796903, essv25797334, essv25796557, essv25796389, essv25796519, essv25797351, essv25797502, essv25796860, essv25797592
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892648
Frequency
Sample Size3017
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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