A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv524e199



Internal ID22758297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2810668..2818121hg38UCSC Ensembl
chr17:2713962..2721415hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387454
hg197454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674145, esv2675799
SamplesHG00187, HG00267
Known GenesRAP1GAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv524e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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