A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782833



Internal ID19172624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47092181..47111484hg38UCSC Ensembl
Innerchr2:47319320..47338623hg19UCSC Ensembl
Innerchr2:47172824..47192127hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3819304
hg1919304
hg1819304
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892059
Supporting Variants
Samples
Known GenesC2orf61
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=8
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782833
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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