A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004012



Internal ID7069114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:73157152..73160732hg38UCSC Ensembl
Outerchr6:73866875..73870455hg19UCSC Ensembl
Outerchr6:73923596..73927176hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg383581
hg193581
hg183581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564025
SamplesHuRef
Known GenesKCNQ5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004012
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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