A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731408



Internal ID10315044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1141824..1141911hg38UCSC Ensembl
Outerchr6:1142059..1142146hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818078, essv6848960, essv6963555
SamplesSSM027, SSM086, SSM078
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)esv2731408
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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