A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622506



Internal ID6662676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18414999..18419885hg38UCSC Ensembl
Innerchr10:18414999..18419885hg38UCSC Ensembl
Outerchr10:18414866..18420108hg38UCSC Ensembl
chr10:18703928..18708814hg19UCSC Ensembl
Innerchr10:18703928..18708814hg19UCSC Ensembl
Outerchr10:18703795..18709037hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg384887
hg194887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13710186, essv13710188, essv13710187
SamplesNA19428, NA19440, HG01356
Known GenesCACNB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622506
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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