A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629567



Internal ID7016388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55190249..55191148hg38UCSC Ensembl
Innerchr12:55190256..55191142hg38UCSC Ensembl
Outerchr12:55190243..55191155hg38UCSC Ensembl
chr12:55584033..55584932hg19UCSC Ensembl
Innerchr12:55584040..55584926hg19UCSC Ensembl
Outerchr12:55584027..55584939hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14485462, essv14485468, essv14485461, essv14485463, essv14485459, essv14485467, essv14485460, essv14485466, essv14485465, essv14485464
SamplesNA19028, NA19378, NA20298, HG02854, HG03225, NA19451, NA19449, HG03388, NA19320, NA19401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629567
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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