A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822810



Internal ID10224011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152846794..152847033hg38UCSC Ensembl
Outerchr7:152543879..152544118hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735460
Supporting Variants
SamplesSSM079
Known GenesACTR3B
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)essv6822810
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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