A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6712169



Internal ID9778039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128603294..128603714hg38UCSC Ensembl
Outerchr7:128243348..128243768hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38421
hg19421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735137, esv2735141
Supporting Variants
SamplesSSM042
Known Genes
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)essv6712169
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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