A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948172



Internal ID9709266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138310817..138311661hg38UCSC Ensembl
Outerchr7:137995562..137996406hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38845
hg19845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735212, esv2735214
Supporting Variants
SamplesSSM024
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)essv6948172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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