A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7423357



Internal ID10701639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:49151077..49151407hg38UCSC Ensembl
Outerchr17:47228439..47228769hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3153790
Supporting Variants
SamplesHuRef
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7423357
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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