A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6749242



Internal ID10000419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:96524197..96524432hg38UCSC Ensembl
Outerchr1:96989753..96989988hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715141, esv2715118, esv2715129, esv2715107
Supporting Variants
SamplesSSM008
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)essv6749242
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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