A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14540177



Internal ID3678938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76721507..76724403hg38UCSC Ensembl
Innerchr12:76721524..76724386hg38UCSC Ensembl
Outerchr12:76721490..76724420hg38UCSC Ensembl
chr12:77115287..77118183hg19UCSC Ensembl
Innerchr12:77115304..77118166hg19UCSC Ensembl
Outerchr12:77115270..77118200hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg382897
hg192897
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630034
Supporting Variants
SamplesHG03280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14540177
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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