A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973119



Internal ID9731663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166116591..166116678hg38UCSC Ensembl
Outerchr2:166973101..166973188hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721078, esv2721080, esv2721079
Supporting Variants
SamplesSSM029
Known GenesSCN1A
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)essv6973119
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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