A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565127



Internal ID7036227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110973102..110978051hg38UCSC Ensembl
Outerchr6:111294305..111299254hg19UCSC Ensembl
Outerchr6:111400998..111405947hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384950
hg194950
hg184950
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989530
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565127
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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