A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662762



Internal ID9582181
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5746420
SamplesHG00140
Known GenesCTNS, SHPK, TRPV1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662762
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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