A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446331



Internal ID15293281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110879920..110881245hg38UCSC Ensembl
Innerchr12:110879920..110881245hg38UCSC Ensembl
Outerchr12:110879860..110881300hg38UCSC Ensembl
chr12:111317724..111319049hg19UCSC Ensembl
Innerchr12:111317724..111319049hg19UCSC Ensembl
Outerchr12:111317664..111319104hg19UCSC Ensembl
chr12:109802107..109803432hg18UCSC Ensembl
Innerchr12:109802107..109803432hg18UCSC Ensembl
Outerchr12:109802047..109803487hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381326
hg191326
hg181326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8651839
SamplesNA19240
Known GenesCCDC63
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446331
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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