A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6489462



Internal ID8784392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2810705..2817998hg38UCSC Ensembl
Outerchr17:2810668..2818048hg38UCSC Ensembl
Innerchr17:2713999..2721292hg19UCSC Ensembl
Outerchr17:2713962..2721342hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387381
hg197381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675799
Supporting Variants
SamplesHG00187
Known GenesRAP1GAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6489462
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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