A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789169



Internal ID19165985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188777265..189351888hg38UCSC Ensembl
Innerchr1:188746396..189321018hg19UCSC Ensembl
Innerchr1:187013019..187587641hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38574624
hg19574623
hg18574623
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890882
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=66
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789169
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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