A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5620847



Internal ID8598250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12554203..12554585hg38UCSC Ensembl
chr10:12596202..12596584hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662299
Supporting Variants
SamplesNA12414
Known GenesCAMK1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5620847
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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