A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677936



Internal ID9597355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:18415003..18419867hg38UCSC Ensembl
chr10:18703932..18708796hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg384865
hg194865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6448544, essv5675541, essv6464063
SamplesNA19428, NA19440, HG01356
Known GenesCACNB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677936
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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