A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907890



Internal ID9672750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:82099414..82099730hg38UCSC Ensembl
Outerchr7:81728730..81729046hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734746
Supporting Variants
SamplesSSM014
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)essv6907890
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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