A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639722



Internal ID6679812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2810684..2818015hg38UCSC Ensembl
Innerchr17:2810708..2817991hg38UCSC Ensembl
Outerchr17:2810660..2818039hg38UCSC Ensembl
chr17:2713978..2721309hg19UCSC Ensembl
Innerchr17:2714002..2721285hg19UCSC Ensembl
Outerchr17:2713954..2721333hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387332
hg197332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15584615
SamplesHG00187
Known GenesRAP1GAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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