A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14618475



Internal ID6478111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119905057..119939038hg38UCSC Ensembl
Innerchr12:119905557..119938538hg38UCSC Ensembl
Outerchr12:119904057..119940038hg38UCSC Ensembl
chr12:120342861..120376842hg19UCSC Ensembl
Innerchr12:120343361..120376342hg19UCSC Ensembl
Outerchr12:120341861..120377842hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3833982
hg1933982
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630916
Supporting Variants
SamplesNA20524
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14618475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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