A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622382



Internal ID6662552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12558575..12560587hg38UCSC Ensembl
Innerchr10:12558575..12560587hg38UCSC Ensembl
Outerchr10:12558358..12560882hg38UCSC Ensembl
chr10:12600574..12602586hg19UCSC Ensembl
Innerchr10:12600574..12602586hg19UCSC Ensembl
Outerchr10:12600357..12602881hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13697698, essv13697695, essv13697694, essv13697693, essv13697697, essv13697696
SamplesNA19394, NA19332, HG02891, HG03212, NA19385, NA20126
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622382
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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