A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8956238



Internal ID12894792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482025..21482049hg38UCSC Ensembl
Innerchr12:21482028..21482043hg38UCSC Ensembl
Outerchr12:21482004..21482070hg38UCSC Ensembl
chr12:21634959..21634983hg19UCSC Ensembl
Innerchr12:21634962..21634977hg19UCSC Ensembl
Outerchr12:21634938..21635004hg19UCSC Ensembl
chr12:21526226..21526250hg18UCSC Ensembl
Innerchr12:21526244..21526229hg18UCSC Ensembl
Outerchr12:21526205..21526271hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38250
hg19250
hg18250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341944
Supporting Variants
SamplesNA11993
Known GenesRECQL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8956238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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