A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576965



Internal ID7048347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49151083..49151412hg38UCSC Ensembl
chr17:47228445..47228774hg19UCSC Ensembl
chr17:44583444..44583773hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38330
hg19330
hg18330
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011150
Supporting Variants
SamplesHuRef
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576965
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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