A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6798131



Internal ID10004683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77175047..77176534hg38UCSC Ensembl
Outerchr7:76804364..76805851hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381488
hg191488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734692
Supporting Variants
SamplesSSM009
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)essv6798131
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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