A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721819



Internal ID10305455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239184569..239185294hg38UCSC Ensembl
Outerchr2:240106265..240106990hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700151, essv6847797, essv6968476, essv6946991, essv6864567, essv6951057, essv6821650, essv6929603, essv6829451, essv6922251, essv6942367
SamplesSSM024, SSM079, SSM039, SSM023, SSM028, SSM018, SSM089, SSM086, SSM081, SSM020, SSM025
Known GenesHDAC4
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)esv2721819
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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