A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628429



Internal ID7015253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7563679..7568704hg38UCSC Ensembl
Innerchr12:7563697..7568686hg38UCSC Ensembl
Outerchr12:7563661..7568722hg38UCSC Ensembl
chr12:7716275..7721300hg19UCSC Ensembl
Innerchr12:7716293..7721282hg19UCSC Ensembl
Outerchr12:7716257..7721318hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385026
hg195026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14348444, essv14348442, essv14348451, essv14348452, essv14348443, essv14348449, essv14348448, essv14348446, essv14348447, essv14348445, essv14348450
SamplesHG02614, HG01060, HG03091, HG01308, NA19456, HG01392, HG02585, HG02675, HG02557, HG02982, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628429
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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