A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13708535



Internal ID3710351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18214144..18214660hg38UCSC Ensembl
Innerchr10:18214144..18214660hg38UCSC Ensembl
Outerchr10:18214144..18214660hg38UCSC Ensembl
chr10:18503073..18503589hg19UCSC Ensembl
Innerchr10:18503073..18503589hg19UCSC Ensembl
Outerchr10:18503073..18503589hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622503
Supporting Variants
SamplesHG01260
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13708535
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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