A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628532



Internal ID7015356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10240355..10258144hg38UCSC Ensembl
Innerchr12:10240355..10258144hg38UCSC Ensembl
Outerchr12:10240176..10258327hg38UCSC Ensembl
chr12:10392954..10410743hg19UCSC Ensembl
Innerchr12:10392954..10410743hg19UCSC Ensembl
Outerchr12:10392775..10410926hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817790
hg1917790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14374098, essv14374097, essv14374096, essv14374099, essv14374095
SamplesHG03126, HG03099, HG03369, HG02450, HG01958
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628532
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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