A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14630267



Internal ID5329811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129503216..129507624hg38UCSC Ensembl
Innerchr12:129503236..129507605hg38UCSC Ensembl
Outerchr12:129503197..129507644hg38UCSC Ensembl
chr12:129987761..129992169hg19UCSC Ensembl
Innerchr12:129987781..129992150hg19UCSC Ensembl
Outerchr12:129987742..129992189hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384409
hg194409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631177
Supporting Variants
SamplesNA18871
Known GenesTMEM132D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14630267
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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