A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743412



Internal ID9806937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138354984..138355585hg38UCSC Ensembl
Outerchr7:138039729..138040330hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735215
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)essv6743412
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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