A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628304



Internal ID7015128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2023524..2026119hg38UCSC Ensembl
Innerchr12:2023524..2026119hg38UCSC Ensembl
Outerchr12:2023322..2026330hg38UCSC Ensembl
chr12:2132690..2135285hg19UCSC Ensembl
Innerchr12:2132690..2135285hg19UCSC Ensembl
Outerchr12:2132488..2135496hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382596
hg192596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337207, essv14337208, essv14337209
SamplesHG02642, HG02666, NA19117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628304
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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