A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948120



Internal ID9709313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82099414..82099742hg38UCSC Ensembl
Outerchr7:81728730..81729058hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734746
Supporting Variants
SamplesSSM024
Known GenesCACNA2D1
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)essv6948120
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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