A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628399



Internal ID7015223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6171097..6176622hg38UCSC Ensembl
Innerchr12:6171154..6176565hg38UCSC Ensembl
Outerchr12:6171040..6176679hg38UCSC Ensembl
chr12:6280263..6285788hg19UCSC Ensembl
Innerchr12:6280320..6285731hg19UCSC Ensembl
Outerchr12:6280206..6285845hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385526
hg195526
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14345870, essv14345868, essv14345866, essv14345881, essv14345867, essv14345874, essv14345869, essv14345877, essv14345879, essv14345876, essv14345872, essv14345880, essv14345878, essv14345873, essv14345875, essv14345871
SamplesNA21110, HG03963, HG03968, HG04106, NA21107, HG03814, HG03585, HG02737, HG03805, NA21086, HG04063, HG04152, HG03914, HG03838, HG03012, HG04061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628399
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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