A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628601



Internal ID7015425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12107338..12112322hg38UCSC Ensembl
Innerchr12:12107354..12112306hg38UCSC Ensembl
Outerchr12:12107322..12112338hg38UCSC Ensembl
chr12:12260272..12265256hg19UCSC Ensembl
Innerchr12:12260288..12265240hg19UCSC Ensembl
Outerchr12:12260256..12265272hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg384985
hg194985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14385638, essv14385642, essv14385636, essv14385641, essv14385637, essv14385635, essv14385639, essv14385640
SamplesHG03168, HG02281, HG03268, HG02442, NA19236, NA18853, HG01958, HG02643
Known GenesMIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628601
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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