A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721145



Internal ID9955441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172857648..172858121hg38UCSC Ensembl
Outerchr2:173722376..173722849hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785448, essv6929530, essv6942280, essv6700074, essv6922178, essv6781333
SamplesSSM039, SSM023, SSM018, SSM069, SSM068, SSM020
Known GenesRAPGEF4
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)esv2721145
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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