A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6910342



Internal ID10024032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16389884..16390034hg38UCSC Ensembl
Outerchr2:16571152..16571302hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719742, esv2719741
Supporting Variants
SamplesSSM015
Known Genes
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)essv6910342
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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