A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792887



Internal ID18821629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76549200..76927730hg38UCSC Ensembl
Innerchr7:76178517..76557047hg19UCSC Ensembl
Innerchr7:76016453..76394983hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38378531
hg19378531
hg18378531
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891147
Supporting Variants
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=47
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792887
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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