A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667735



Internal ID10084770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101489595..101489840hg38UCSC Ensembl
Outerchr7:101132876..101133121hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734930
Supporting Variants
SamplesSSM030
Known GenesCOL26A1
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)essv6667735
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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