A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5677277



Internal ID9563145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129503351..129507606hg38UCSC Ensembl
Outerchr12:129503194..129507759hg38UCSC Ensembl
Innerchr12:129987896..129992151hg19UCSC Ensembl
Outerchr12:129987739..129992304hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384566
hg194566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666167
Supporting Variants
SamplesNA19107
Known GenesTMEM132D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5677277
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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