A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438193



Internal ID4440009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32283316..32290530hg38UCSC Ensembl
Innerchr12:32283355..32290492hg38UCSC Ensembl
Outerchr12:32283278..32290569hg38UCSC Ensembl
chr12:32436250..32443464hg19UCSC Ensembl
Innerchr12:32436289..32443426hg19UCSC Ensembl
Outerchr12:32436212..32443503hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387215
hg197215
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629072
Supporting Variants
SamplesNA19982
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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