A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722068



Internal ID10133342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100923007..100923318hg38UCSC Ensembl
Outerchr1:101388563..101388874hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715407
Supporting Variants
SamplesSSM045
Known GenesSLC30A7
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)essv6722068
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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