A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622380



Internal ID6662550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12541612..12542130hg38UCSC Ensembl
Innerchr10:12541614..12542128hg38UCSC Ensembl
Outerchr10:12541610..12542132hg38UCSC Ensembl
chr10:12583611..12584129hg19UCSC Ensembl
Innerchr10:12583613..12584127hg19UCSC Ensembl
Outerchr10:12583609..12584131hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696608, essv13696610, essv13696613, essv13696609, essv13696611, essv13696612
SamplesNA18870, NA18871, HG01956, HG01272, HG03100, HG02505
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622380
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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