A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658786



Internal ID9924891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16670413..16683901hg38UCSC Ensembl
Outerchr17:16670256..16684054hg38UCSC Ensembl
Innerchr17:16573727..16587215hg19UCSC Ensembl
Outerchr17:16573570..16587368hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3813799
hg1913799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6139961, essv5971456, essv6030144, essv5858007, essv5807581
SamplesHG01173, NA20812, HG00260, NA12763, NA19779
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658786
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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