A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723152



Internal ID10134319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19764883..19770966hg38UCSC Ensembl
Outerchr6:19765114..19771197hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386084
hg196084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731659
Supporting Variants
SamplesSSM045
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)essv6723152
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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