A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6589334



Internal ID9354013
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 Flag1
Merged StatusS
Merged Variantsesv2667523
Supporting Variants
SamplesNA18549
Known GenesGLT1D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6589334
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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