A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667523



Internal ID9933628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128963610..128968364hg38UCSC Ensembl
chr12:129448155..129452909hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384755
hg194755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6589334
SamplesNA18549
Known GenesGLT1D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667523
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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