A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735235



Internal ID9969565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139865660..139865857hg38UCSC Ensembl
Outerchr7:139565459..139565656hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6927131
SamplesSSM019
Known GenesTBXAS1
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)esv2735235
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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