A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14331560



Internal ID4333376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:919598..920450hg38UCSC Ensembl
Innerchr12:919732..920400hg38UCSC Ensembl
Outerchr12:919258..920790hg38UCSC Ensembl
chr12:1028764..1029616hg19UCSC Ensembl
Innerchr12:1028898..1029566hg19UCSC Ensembl
Outerchr12:1028424..1029956hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38853
hg19853
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628262
Supporting Variants
SamplesHG03024
Known GenesRAD52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14331560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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