A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622384



Internal ID6662554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12663024..12664491hg38UCSC Ensembl
Innerchr10:12663039..12664477hg38UCSC Ensembl
Outerchr10:12663010..12664506hg38UCSC Ensembl
chr10:12705023..12706490hg19UCSC Ensembl
Innerchr10:12705038..12706476hg19UCSC Ensembl
Outerchr10:12705009..12706505hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13697705, essv13697710, essv13697716, essv13697708, essv13697712, essv13697706, essv13697719, essv13697720, essv13697714, essv13697722, essv13697717, essv13697713, essv13697709, essv13697707, essv13697718, essv13697721, essv13697711, essv13697715
SamplesHG04225, NA11930, HG03886, HG04238, NA18536, NA18547, HG00634, HG03600, NA18634, HG03895, HG02127, HG01455, NA18749, HG03767, NA18999, HG03745, NA21109, HG04018
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622384
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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