A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796665



Internal ID19180592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212828746..212838469hg38UCSC Ensembl
Innerchr1:213002088..213011811hg19UCSC Ensembl
Innerchr1:211068711..211078434hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg389724
hg199724
hg189724
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891104
Supporting Variants
Samples
Known GenesC1orf227
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796665
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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