A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579516



Internal ID7050898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83011918..83012157hg38UCSC Ensembl
chr17:80969794..80970033hg19UCSC Ensembl
chr17:78563083..78563322hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998309
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579516
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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