A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6705628



Internal ID9771860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19479595..19480027hg38UCSC Ensembl
Outerchr8:19337106..19337538hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736725
Supporting Variants
SamplesSSM040
Known GenesCSGALNACT1
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)essv6705628
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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