A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6910474



Internal ID9677227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165158160..165160322hg38UCSC Ensembl
Outerchr2:166014670..166016832hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382163
hg192163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721067
Supporting Variants
SamplesSSM015
Known GenesSCN3A
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)essv6910474
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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