A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748997



Internal ID9812282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138310777..138311659hg38UCSC Ensembl
Outerchr7:137995522..137996404hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735214
Supporting Variants
SamplesSSM056
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)essv6748997
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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