A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5746420



Internal ID8723823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:3601038..3658129hg38UCSC Ensembl
Outerchr17:3601001..3658179hg38UCSC Ensembl
Innerchr17:3504332..3561423hg19UCSC Ensembl
Outerchr17:3504295..3561473hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3857179
hg1957179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2662762
Supporting Variants
SamplesHG00140
Known GenesCTNS, SHPK, TRPV1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5746420
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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