A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629068



Internal ID6669208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32183567..32191949hg38UCSC Ensembl
Innerchr12:32183567..32191949hg38UCSC Ensembl
Outerchr12:32183067..32192449hg38UCSC Ensembl
chr12:32336501..32344883hg19UCSC Ensembl
Innerchr12:32336501..32344883hg19UCSC Ensembl
Outerchr12:32336001..32345383hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388383
hg198383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14437031
SamplesHG00698
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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