A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14646875



Internal ID6323642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132081589..132083552hg38UCSC Ensembl
Innerchr12:132081589..132083552hg38UCSC Ensembl
Outerchr12:132081340..132083757hg38UCSC Ensembl
chr12:132566134..132568097hg19UCSC Ensembl
Innerchr12:132566134..132568097hg19UCSC Ensembl
Outerchr12:132565885..132568302hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631286
Supporting Variants
SamplesNA19920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14646875
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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