A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675595



Internal ID9595014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12558554..12560556hg38UCSC Ensembl
chr10:12600553..12602555hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382003
hg192003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6247010, essv5964721, essv5587422, essv5851996
SamplesNA20126, NA19332, NA19394, NA19385
Known GenesCAMK1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675595
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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