A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651852



Internal ID14753474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2538776..2540232hg38UCSC Ensembl
Innerchr12:2538776..2540232hg38UCSC Ensembl
Outerchr12:2538551..2540308hg38UCSC Ensembl
chr12:2647942..2649398hg19UCSC Ensembl
Innerchr12:2647942..2649398hg19UCSC Ensembl
Outerchr12:2647717..2649474hg19UCSC Ensembl
chr12:2518203..2519659hg18UCSC Ensembl
Innerchr12:2518203..2519659hg18UCSC Ensembl
Outerchr12:2517978..2519735hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3439947
Supporting Variants
SamplesNA19240
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651852
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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