A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972597



Internal ID10078820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:183149036..183150027hg38UCSC Ensembl
Outerchr1:183118171..183119162hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38992
hg19992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720095
Supporting Variants
SamplesSSM029
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)essv6972597
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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