A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721130



Internal ID9955426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:171808183..171808360hg38UCSC Ensembl
Outerchr2:172664693..172664870hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968404, essv6777342, essv6872035, essv6686504, essv6942277, essv6669657, essv6697292, essv6886285, essv6832977, essv6853874, essv6797904
SamplesSSM087, SSM038, SSM023, SSM028, SSM096, SSM035, SSM031, SSM067, SSM072, SSM082, SSM091
Known GenesSLC25A12
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)esv2721130
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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