A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6952260



Internal ID9713658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128499606..128999666hg38UCSC Ensembl
Outerchr7:128139660..128639720hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38500061
hg19500061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735137
Supporting Variants
SamplesSSM025
Known GenesATP6V1F, CALU, CCDC136, FAM71F1, FAM71F2, FLNC, IRF5, KCP, LINC01000, LOC100130705, METTL2B, OPN1SW, TNPO3
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)essv6952260
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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