A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6974642



Internal ID10083293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:10070581..10070783hg38UCSC Ensembl
Outerchr6:10070814..10071016hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731574
Supporting Variants
SamplesSSM029
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)essv6974642
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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