A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622378



Internal ID6662548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12514303..12516938hg38UCSC Ensembl
Innerchr10:12514303..12516938hg38UCSC Ensembl
Outerchr10:12514043..12517206hg38UCSC Ensembl
chr10:12556302..12558937hg19UCSC Ensembl
Innerchr10:12556302..12558937hg19UCSC Ensembl
Outerchr10:12556042..12559205hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382636
hg192636
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696606, essv13696605
SamplesNA19081, NA18637
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622378
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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