A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661984



Internal ID9581403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:68567006..68569085hg38UCSC Ensembl
chr17:66563147..66565226hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg382080
hg192080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5614012, essv5407296, essv5778902, essv6212398, essv6287898, essv6460774, essv5539244, essv6413308, essv6182173
SamplesNA19914, NA19355, NA18519, NA19471, NA19445, NA19247, NA19453, NA19473, NA19102
Known GenesFAM20A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661984
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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