A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735452



Internal ID9969782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152412256..152412354hg38UCSC Ensembl
Outerchr7:152109341..152109439hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818684
SamplesSSM078
Known GenesKMT2C
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)esv2735452
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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