A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6919550



Internal ID9683187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:81633517..81689699hg38UCSC Ensembl
Outerchr8:82545752..82601934hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3856183
hg1956183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737230
Supporting Variants
SamplesSSM017
Known GenesIMPA1
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)essv6919550
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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