A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757406



Internal ID10165986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47382412..47382964hg38UCSC Ensembl
Outerchr6:47350148..47350700hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38553
hg19553
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732038
Supporting Variants
SamplesSSM059
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)essv6757406
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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