A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721078



Internal ID9955374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166116207..166116878hg38UCSC Ensembl
Outerchr2:166972717..166973388hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669646, essv6973119, essv6700068, essv6739180
SamplesSSM031, SSM039, SSM029, SSM052
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)esv2721078
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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