A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14476865



Internal ID4478682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49202645..49207158hg38UCSC Ensembl
Innerchr12:49202645..49207158hg38UCSC Ensembl
Outerchr12:49202460..49207359hg38UCSC Ensembl
chr12:49596428..49600941hg19UCSC Ensembl
Innerchr12:49596428..49600941hg19UCSC Ensembl
Outerchr12:49596243..49601142hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384514
hg194514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629449
Supporting Variants
SamplesHG02286
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14476865
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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