A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677398



Internal ID9596817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32299447..32303194hg38UCSC Ensembl
chr12:32452381..32456128hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818660, essv6263343
SamplesNA19445, NA19453
Known GenesBICD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677398
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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