A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721820



Internal ID10305456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239184712..239184886hg38UCSC Ensembl
Outerchr2:240106408..240106582hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700151, essv6847797, essv6968476, essv6946991, essv6951057, essv6821650, essv6829451, essv6942367
SamplesSSM024, SSM079, SSM039, SSM023, SSM028, SSM086, SSM081, 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)esv2721820
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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