A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7761893



Internal ID13404662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:21482028..21482029hg38UCSC Ensembl
Innerchr12:21481995..21482062hg38UCSC Ensembl
Outerchr12:21481994..21482063hg38UCSC Ensembl
chr12:21634962..21634963hg19UCSC Ensembl
Innerchr12:21634929..21634996hg19UCSC Ensembl
Outerchr12:21634928..21634997hg19UCSC Ensembl
chr12:21526229..21526230hg18UCSC Ensembl
Innerchr12:21526263..21526196hg18UCSC Ensembl
Outerchr12:21526195..21526264hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303869
Supporting Variants
SamplesNA12155
Known GenesRECQL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7761893
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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