A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444035



Internal ID14944302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124430653..124432451hg38UCSC Ensembl
Innerchr12:124431451..124431653hg38UCSC Ensembl
Outerchr12:124429653..124433451hg38UCSC Ensembl
chr12:124915199..124916997hg19UCSC Ensembl
Innerchr12:124915997..124916199hg19UCSC Ensembl
Outerchr12:124914199..124917997hg19UCSC Ensembl
chr12:123481152..123482950hg18UCSC Ensembl
Innerchr12:123482152..123481950hg18UCSC Ensembl
Outerchr12:123480152..123483950hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv928e59
Supporting Variantsessv8688579
SamplesNA19240
Known GenesNCOR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444035
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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