A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630847



Internal ID6670980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116271339..116272307hg38UCSC Ensembl
Innerchr12:116271389..116272257hg38UCSC Ensembl
Outerchr12:116271279..116272367hg38UCSC Ensembl
chr12:116709144..116710112hg19UCSC Ensembl
Innerchr12:116709194..116710062hg19UCSC Ensembl
Outerchr12:116709084..116710172hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14610997, essv14610996, essv14610993, essv14610995, essv14610994, essv14610998
SamplesHG03757, HG02786, HG02737, HG03238, HG03703, NA21133
Known GenesMED13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630847
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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