A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673405



Internal ID9592824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12615445..12615710hg38UCSC Ensembl
chr10:12657444..12657709hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5403438, essv6169712, essv5887017, essv6521534, essv5656782, essv5883942, essv5672749, essv6575444, essv5878547, essv6104687, essv6373775, essv6269358, essv5879502, essv5950869, essv6491236, essv5875011, essv6056211, essv5510933, essv6554306, essv5715949, essv5597808, essv6526696
SamplesNA12249, NA18516, NA18489, NA19144, NA19685, NA19257, NA19190, NA19172, NA19372, NA19374, NA18498, NA18486, NA18510, NA18504, NA19328, NA19138, NA18909, NA19116, NA19452, HG01108, NA19130, HG01102
Known GenesCAMK1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673405
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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