A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001991



Internal ID7067109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:100226775..100238059hg38UCSC Ensembl
Outerchr6:100674651..100685935hg19UCSC Ensembl
Outerchr6:100781372..100792656hg18UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3811285
hg1911285
hg1811285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565243
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001991
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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