A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6782592



Internal ID9840870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149581471..149629316hg38UCSC Ensembl
Outerchr7:149278562..149326407hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3847846
hg1947846
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735332
Supporting Variants
SamplesSSM068
Known GenesZNF767
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)essv6782592
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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