A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401797



Internal ID15248759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101747623..101747819hg38UCSC Ensembl
Innerchr12:101747623..101747819hg38UCSC Ensembl
Outerchr12:101747299..101748408hg38UCSC Ensembl
chr12:102141401..102141597hg19UCSC Ensembl
Innerchr12:102141401..102141597hg19UCSC Ensembl
Outerchr12:102141077..102142186hg19UCSC Ensembl
chr12:100665532..100665728hg18UCSC Ensembl
Innerchr12:100665532..100665728hg18UCSC Ensembl
Outerchr12:100665208..100666317hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38197
hg19197
hg18197
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651837
SamplesNA19240
Known GenesGNPTAB
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401797
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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