A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14474825



Internal ID1500891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47037914..47040678hg38UCSC Ensembl
Innerchr12:47037914..47040678hg38UCSC Ensembl
Outerchr12:47037847..47040769hg38UCSC Ensembl
chr12:47431697..47434461hg19UCSC Ensembl
Innerchr12:47431697..47434461hg19UCSC Ensembl
Outerchr12:47431630..47434552hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382765
hg192765
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629411
Supporting Variants
SamplesHG01377
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14474825
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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