A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799780



Internal ID19166823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:52895511..52989779hg38UCSC Ensembl
Innerchr2:53122649..53216917hg19UCSC Ensembl
Innerchr2:52976153..53070421hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3894269
hg1994269
hg1894269
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892348
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=21
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799780
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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