A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964461



Internal ID9645321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149491733..149618627hg38UCSC Ensembl
Outerchr7:149188824..149315718hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38126895
hg19126895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735330
Supporting Variants
SamplesSSM004
Known GenesZNF746, ZNF767
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)essv6964461
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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