A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701260



Internal ID10113606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168347907..168348158hg38UCSC Ensembl
Outerchr6:168748587..168748838hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733352
Supporting Variants
SamplesSSM039
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)essv6701260
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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