A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25778917



Internal ID19172768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41064119..41266259hg38UCSC Ensembl
Innerchr2:41291259..41493399hg19UCSC Ensembl
Innerchr2:41144763..41346903hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38202141
hg19202141
hg18202141
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891948
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=46
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25778917
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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