A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734459



Internal ID9968786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:56167996..56168091hg38UCSC Ensembl
Outerchr7:56235689..56235784hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975258
SamplesSSM029
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)esv2734459
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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