A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890551



Internal ID9938292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149496029..149623121hg38UCSC Ensembl
Outerchr7:149193120..149320212hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38127093
hg19127093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735330
Supporting Variants
SamplesSSM097
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)essv6890551
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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