A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628709



Internal ID7015533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17302689..17350779hg38UCSC Ensembl
Innerchr12:17302689..17350779hg38UCSC Ensembl
Outerchr12:17302189..17351279hg38UCSC Ensembl
chr12:17455623..17503713hg19UCSC Ensembl
Innerchr12:17455623..17503713hg19UCSC Ensembl
Outerchr12:17455123..17504213hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3848091
hg1948091
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14399880
SamplesHG01991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628709
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