A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7817993



Internal ID14078325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79916007..79916008hg38UCSC Ensembl
Innerchr12:79915990..79916025hg38UCSC Ensembl
Outerchr12:79915989..79916026hg38UCSC Ensembl
chr12:80309787..80309788hg19UCSC Ensembl
Innerchr12:80309770..80309805hg19UCSC Ensembl
Outerchr12:80309769..80309806hg19UCSC Ensembl
chr12:78833918..78833919hg18UCSC Ensembl
Innerchr12:78833936..78833901hg18UCSC Ensembl
Outerchr12:78833900..78833937hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38175
hg19175
hg18175
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304355
Supporting Variants
SamplesNA18909
Known GenesPPP1R12A
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7817993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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