A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6926698



Internal ID9689427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:8337522..8341275hg38UCSC Ensembl
Outerchr6:8337755..8341508hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383754
hg193754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731546, esv2731544
Supporting Variants
SamplesSSM019
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)essv6926698
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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