A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14429234



Internal ID6221210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30351431..30355154hg38UCSC Ensembl
Innerchr12:30351431..30355154hg38UCSC Ensembl
Outerchr12:30351225..30355345hg38UCSC Ensembl
chr12:30504364..30508087hg19UCSC Ensembl
Innerchr12:30504364..30508087hg19UCSC Ensembl
Outerchr12:30504158..30508278hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg383724
hg193724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629013
Supporting Variants
SamplesNA19749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14429234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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