A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6765245



Internal ID9825518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:142756497..142766736hg38UCSC Ensembl
Outerchr7:142464344..142474584hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3810240
hg1910241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735272
Supporting Variants
SamplesSSM063
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)essv6765245
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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