A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721547



Internal ID10305183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:226816693..226816985hg38UCSC Ensembl
Outerchr2:227681409..227681701hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797950, essv6951027, essv6769992, essv6707669, essv6733792, essv6777379, essv6820009, essv6762116
SamplesSSM065, SSM041, SSM062, SSM067, SSM072, SSM010, SSM025, SSM049
Known Genes
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)esv2721547
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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