A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662801



Internal ID9928906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3867973..3868292hg38UCSC Ensembl
chr17:3771267..3771586hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5556680, essv6439338, essv5929706, essv6447207, essv6074964, essv5851729, essv6578798, essv5891995, essv5451052, essv5835156, essv5682529, essv6533578, essv5450279, essv6581635, essv6388097, essv6451696, essv5526729
SamplesNA19397, HG00306, NA19381, NA19313, NA20287, NA19371, HG00731, HG01515, HG01498, NA18871, NA19453, NA18961, NA19398, NA19328, HG01254, NA19116, NA19312
Known GenesCAMKK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662801
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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