A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6853784



Internal ID10251890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118148574..118148721hg38UCSC Ensembl
Outerchr2:118906150..118906297hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720612, esv2720613
Supporting Variants
SamplesSSM087
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)essv6853784
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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