A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6748101



Internal ID9810431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166201267..166201830hg38UCSC Ensembl
Outerchr2:167057777..167058340hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721082
Supporting Variants
SamplesSSM056
Known GenesSCN9A
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)essv6748101
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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