A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964241



Internal ID9724113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94659493..94659633hg38UCSC Ensembl
Outerchr7:94288805..94288945hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38141
hg19141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734837, esv2734838
Supporting Variants
SamplesSSM027
Known GenesPEG10
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)essv6964241
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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