A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731664



Internal ID10315300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20023841..20024337hg38UCSC Ensembl
Outerchr6:20024072..20024568hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6943276, essv6700981, essv6947720, essv6680319, essv6759963, essv6849012
SamplesSSM024, SSM039, SSM023, SSM061, SSM086, SSM033
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)esv2731664
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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