A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6727473



Internal ID9791522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138718198..138718345hg38UCSC Ensembl
Outerchr7:138402943..138403090hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735224, esv2735212, esv2735223
Supporting Variants
SamplesSSM046
Known GenesATP6V0A4
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)essv6727473
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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