A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14385207



Internal ID5232840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12088738..12095247hg38UCSC Ensembl
Innerchr12:12088738..12095247hg38UCSC Ensembl
Outerchr12:12088484..12095512hg38UCSC Ensembl
chr12:12241672..12248181hg19UCSC Ensembl
Innerchr12:12241672..12248181hg19UCSC Ensembl
Outerchr12:12241418..12248446hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386510
hg196510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628598
Supporting Variants
SamplesNA18627
Known GenesBCL2L14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14385207
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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