A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14479974



Internal ID4093089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50822799..50836928hg38UCSC Ensembl
Innerchr12:50822811..50836917hg38UCSC Ensembl
Outerchr12:50822788..50836940hg38UCSC Ensembl
chr12:51216582..51230711hg19UCSC Ensembl
Innerchr12:51216594..51230700hg19UCSC Ensembl
Outerchr12:51216571..51230723hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3814130
hg1914130
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629491
Supporting Variants
SamplesHG03717
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14479974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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