A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784401



Internal ID19162323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219779182..219795196hg38UCSC Ensembl
Innerchr2:220643904..220659918hg19UCSC Ensembl
Innerchr2:220352148..220368162hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3816015
hg1916015
hg1816015
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893556
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784401
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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