A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629072



Internal ID6669212
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14438193, essv14438192
SamplesNA19982, HG03922
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629072
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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