A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628583



Internal ID7015407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11462425..11467825hg38UCSC Ensembl
Innerchr12:11462475..11467775hg38UCSC Ensembl
Outerchr12:11462323..11467927hg38UCSC Ensembl
chr12:11615359..11620759hg19UCSC Ensembl
Innerchr12:11615409..11620709hg19UCSC Ensembl
Outerchr12:11615257..11620861hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14383080, essv14383074, essv14383077, essv14383075, essv14383078, essv14383079, essv14383076
SamplesNA18486, NA18988, HG01372, NA18986, NA19000, NA19010, NA18989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628583
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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