A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6896972



Internal ID10291193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77241152..77241463hg38UCSC Ensembl
Outerchr7:76870469..76870780hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734698
Supporting Variants
SamplesSSM099
Known GenesCCDC146
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6896972
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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