A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890107



Internal ID10284578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1141830..1142083hg38UCSC Ensembl
Outerchr6:1142065..1142318hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731409, esv2731404, esv2731407
Supporting Variants
SamplesSSM097
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)essv6890107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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