A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474090



Internal ID4475906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46237373..46238288hg38UCSC Ensembl
Innerchr12:46237374..46238288hg38UCSC Ensembl
Outerchr12:46237373..46238289hg38UCSC Ensembl
chr12:46631156..46632071hg19UCSC Ensembl
Innerchr12:46631157..46632071hg19UCSC Ensembl
Outerchr12:46631156..46632072hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38916
hg19916
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629399
Supporting Variants
SamplesNA19436
Known GenesSLC38A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474090
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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