A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1011150



Internal ID7059912
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576965
SamplesHuRef
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1011150
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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