A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925772



Internal ID10035279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119016141..119016462hg38UCSC Ensembl
Outerchr1:119558764..119559085hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716729
Supporting Variants
SamplesSSM019
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)essv6925772
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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