A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734837



Internal ID9969167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94659307..94660062hg38UCSC Ensembl
Outerchr7:94288619..94289374hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38756
hg19756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861257, essv6671609, essv6754795, essv6964241, essv6760273
SamplesSSM027, SSM088, SSM058, SSM061, SSM031
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)esv2734837
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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