A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14394044



Internal ID4395860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14577129..14580310hg38UCSC Ensembl
Innerchr12:14577130..14580310hg38UCSC Ensembl
Outerchr12:14577129..14580311hg38UCSC Ensembl
chr12:14730063..14733244hg19UCSC Ensembl
Innerchr12:14730064..14733244hg19UCSC Ensembl
Outerchr12:14730063..14733245hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg383182
hg193182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628653
Supporting Variants
SamplesHG03202
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14394044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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