A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688660



Internal ID14699051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1870925..1871823hg38UCSC Ensembl
Innerchr12:1870924..1871824hg38UCSC Ensembl
Outerchr12:1869925..1872823hg38UCSC Ensembl
chr12:1980091..1980989hg19UCSC Ensembl
Innerchr12:1980090..1980990hg19UCSC Ensembl
Outerchr12:1979091..1981989hg19UCSC Ensembl
chr12:1850352..1851250hg18UCSC Ensembl
Innerchr12:1851251..1850351hg18UCSC Ensembl
Outerchr12:1849352..1852250hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444193
Supporting Variants
SamplesNA19239
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688660
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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