A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674145



Internal ID9940250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2810797..2818086hg38UCSC Ensembl
Outerchr17:2810763..2818121hg38UCSC Ensembl
Innerchr17:2714091..2721380hg19UCSC Ensembl
Outerchr17:2714057..2721415hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387359
hg197359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv524e199
Supporting Variantsessv5625055
SamplesHG00187
Known GenesRAP1GAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674145
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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