A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780740



Internal ID19174214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52207470..52366845hg38UCSC Ensembl
Innerchr2:52434608..52593983hg19UCSC Ensembl
Innerchr2:52288112..52447487hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38159376
hg19159376
hg18159376
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892315
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=47
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780740
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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