A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629401



Internal ID7016223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46315432..46316674hg38UCSC Ensembl
Innerchr12:46315435..46316671hg38UCSC Ensembl
Outerchr12:46315429..46316677hg38UCSC Ensembl
chr12:46709215..46710457hg19UCSC Ensembl
Innerchr12:46709218..46710454hg19UCSC Ensembl
Outerchr12:46709212..46710460hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381243
hg191243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474102, essv14474105, essv14474106, essv14474101, essv14474112, essv14474110, essv14474109, essv14474103, essv14474099, essv14474108, essv14474104, essv14474100, essv14474111, essv14474107
SamplesNA19222, NA19446, NA20320, NA19119, NA18868, NA19209, HG02144, HG03294, HG01890, NA19380, HG02317, NA19323, NA19030, HG03303
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629401
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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