A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6927044



Internal ID9689736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56415494..56416017hg38UCSC Ensembl
Outerchr7:56483187..56483710hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734465, esv2734448
Supporting Variants
SamplesSSM019
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)essv6927044
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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