A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743339



Internal ID10153688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36312876..36313371hg38UCSC Ensembl
Outerchr7:36352485..36352980hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734253
Supporting Variants
SamplesSSM053
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)essv6743339
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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