A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450451



Internal ID14950713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1051725..1052123hg38UCSC Ensembl
Innerchr12:1051724..1052124hg38UCSC Ensembl
Outerchr12:1050725..1053123hg38UCSC Ensembl
chr12:1160891..1161289hg19UCSC Ensembl
Innerchr12:1160890..1161290hg19UCSC Ensembl
Outerchr12:1159891..1162289hg19UCSC Ensembl
chr12:1031152..1031550hg18UCSC Ensembl
Innerchr12:1031551..1031151hg18UCSC Ensembl
Outerchr12:1030152..1032550hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688538
SamplesNA19239
Known GenesERC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450451
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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