A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25799686



Internal ID19166329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56143744..56411721hg38UCSC Ensembl
Innerchr2:56370879..56638856hg19UCSC Ensembl
Innerchr2:56224383..56492360hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38267978
hg19267978
hg18267978
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892459
Supporting Variants
Samples
Known GenesCCDC85A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=99
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25799686
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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