A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721993



Internal ID10305629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241326089..241326797hg38UCSC Ensembl
Outerchr2:242265504..242266212hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962369, essv6847819, essv6955616, essv6854006, essv6864587, essv6973305, essv6669783, essv6817174, essv6859795, essv6739267
SamplesSSM027, SSM087, SSM088, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM052
Known GenesSEPT2
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)esv2721993
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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