A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6737163



Internal ID9800243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56149867..56152534hg38UCSC Ensembl
Outerchr7:56217560..56220227hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg382668
hg192668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734454, esv2734448, esv2734447
Supporting Variants
SamplesSSM050
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)essv6737163
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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