A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651855



Internal ID14753449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27645296..27645376hg38UCSC Ensembl
Innerchr12:27645296..27645376hg38UCSC Ensembl
Outerchr12:27644473..27645588hg38UCSC Ensembl
chr12:27798229..27798309hg19UCSC Ensembl
Innerchr12:27798229..27798309hg19UCSC Ensembl
Outerchr12:27797406..27798521hg19UCSC Ensembl
chr12:27689496..27689576hg18UCSC Ensembl
Innerchr12:27689496..27689576hg18UCSC Ensembl
Outerchr12:27688673..27689788hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365278
Supporting Variants
SamplesNA19240
Known GenesPPFIBP1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651855
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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