A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6805699



Internal ID10209279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99180612..99180964hg38UCSC Ensembl
Outerchr7:98778235..98778587hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734878, esv2734876
Supporting Variants
SamplesSSM074
Known GenesKPNA7
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)essv6805699
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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