A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14464794



Internal ID4466610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43829773..43888036hg38UCSC Ensembl
Innerchr12:43829816..43887994hg38UCSC Ensembl
Outerchr12:43829731..43888079hg38UCSC Ensembl
chr12:44223576..44281839hg19UCSC Ensembl
Innerchr12:44223619..44281797hg19UCSC Ensembl
Outerchr12:44223534..44281882hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3858264
hg1958264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629354
Supporting Variants
SamplesHG00237
Known GenesTMEM117
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14464794
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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