A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14376564



Internal ID4378380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10842466..10843059hg38UCSC Ensembl
Innerchr12:10842488..10843038hg38UCSC Ensembl
Outerchr12:10842445..10843081hg38UCSC Ensembl
chr12:10995065..10995658hg19UCSC Ensembl
Innerchr12:10995087..10995637hg19UCSC Ensembl
Outerchr12:10995044..10995680hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628547
Supporting Variants
SamplesHG04075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14376564
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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