A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847282



Internal ID10246036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212190144..212190282hg38UCSC Ensembl
Outerchr1:212363486..212363624hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722450, esv2722428
Supporting Variants
SamplesSSM086
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)essv6847282
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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