A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628242



Internal ID6668385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:470754..476578hg38UCSC Ensembl
Innerchr12:470804..476528hg38UCSC Ensembl
Outerchr12:470704..476628hg38UCSC Ensembl
chr12:579920..585744hg19UCSC Ensembl
Innerchr12:579970..585694hg19UCSC Ensembl
Outerchr12:579870..585794hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385825
hg195825
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329783
SamplesHG03193
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer