A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721757



Internal ID10305393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238275952..238276248hg38UCSC Ensembl
Outerchr2:239184593..239184889hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853976, essv6848176, essv6914383, essv6955582, essv6859778
SamplesSSM011, SSM087, SSM088, SSM026, SSM016
Known GenesPER2
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)esv2721757
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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