A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14609676



Internal ID2524499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115349181..115350177hg38UCSC Ensembl
Innerchr12:115349234..115350125hg38UCSC Ensembl
Outerchr12:115349129..115350230hg38UCSC Ensembl
chr12:115786986..115787982hg19UCSC Ensembl
Innerchr12:115787039..115787930hg19UCSC Ensembl
Outerchr12:115786934..115788035hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38997
hg19997
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630828
Supporting Variants
SamplesHG02238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14609676
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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