A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6734536



Internal ID9796971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56150058..56152533hg38UCSC Ensembl
Outerchr7:56217751..56220226hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734454, esv2734448, esv2734447
Supporting Variants
SamplesSSM049
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)essv6734536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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