A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6975566



Internal ID10082460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:158331541..158336414hg38UCSC Ensembl
Outerchr7:158124233..158129106hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg384874
hg194874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735925, esv2735923
Supporting Variants
SamplesSSM029
Known GenesPTPRN2
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)essv6975566
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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