A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438191



Internal ID4440007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32278550..32288890hg38UCSC Ensembl
Innerchr12:32279050..32288390hg38UCSC Ensembl
Outerchr12:32277550..32289890hg38UCSC Ensembl
chr12:32431484..32441824hg19UCSC Ensembl
Innerchr12:32431984..32441324hg19UCSC Ensembl
Outerchr12:32430484..32442824hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3810341
hg1910341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629071
Supporting Variants
SamplesNA19982
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438191
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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