A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734381



Internal ID10318017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:50969634..50970995hg38UCSC Ensembl
Outerchr7:51037331..51038692hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381362
hg191362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6881603
SamplesSSM094
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)esv2734381
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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