A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773789



Internal ID10179893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:117853838..117854239hg38UCSC Ensembl
Outerchr2:118611414..118611815hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720608, esv2720606
Supporting Variants
SamplesSSM066
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)essv6773789
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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