A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741559



Internal ID9975865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178432436..178441558hg38UCSC Ensembl
Outerchr2:179297163..179306285hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389123
hg199123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv625e201
Supporting Variantsessv6762099
SamplesSSM062
Known GenesMIR548N, PRKRA
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)esv2741559
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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