A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891392



Internal ID18839102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247096269..247120017hg38UCSC Ensembl
Outerchr1:247096269..247120017hg38UCSC Ensembl
Innerchr1:247259571..247283319hg19UCSC Ensembl
Outerchr1:247259571..247283319hg19UCSC Ensembl
Innerchr1:245326194..245349942hg18UCSC Ensembl
Outerchr1:245326194..245349942hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3823749
hg1923749
hg1823749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797538
Samples
Known GenesC1orf229, ZNF669
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891392
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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