A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891104



Internal ID19185500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:212830086..212838469hg38UCSC Ensembl
Outerchr1:212826359..212838469hg38UCSC Ensembl
Innerchr1:213003428..213011811hg19UCSC Ensembl
Outerchr1:212999701..213011811hg19UCSC Ensembl
Innerchr1:211070051..211078434hg18UCSC Ensembl
Outerchr1:211066324..211078434hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3812111
hg1912111
hg1812111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797075, essv25797564, essv25796636, essv25796665, essv25797117, essv25797064
Samples
Known GenesC1orf227
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891104
Frequency
Sample Size3017
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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