A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630846



Internal ID6670979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116251443..116254781hg38UCSC Ensembl
Innerchr12:116251443..116254781hg38UCSC Ensembl
Outerchr12:116251222..116254977hg38UCSC Ensembl
chr12:116689248..116692586hg19UCSC Ensembl
Innerchr12:116689248..116692586hg19UCSC Ensembl
Outerchr12:116689027..116692782hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383339
hg193339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14610992, essv14610983, essv14610990, essv14610987, essv14610984, essv14610991, essv14610989, essv14610988, essv14610985, essv14610986
SamplesNA19819, NA20362, HG03199, NA19383, NA19213, HG02558, NA19138, NA18915, NA20359, NA19198
Known GenesMED13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630846
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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