A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8957309



Internal ID14350435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52776024..52776038hg38UCSC Ensembl
Innerchr12:52776020..52776040hg38UCSC Ensembl
Outerchr12:52776008..52776054hg38UCSC Ensembl
chr12:53169808..53169822hg19UCSC Ensembl
Innerchr12:53169804..53169824hg19UCSC Ensembl
Outerchr12:53169792..53169838hg19UCSC Ensembl
chr12:51456075..51456089hg18UCSC Ensembl
Innerchr12:51456091..51456071hg18UCSC Ensembl
Outerchr12:51456059..51456105hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386026
hg196026
hg186026
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424879
Supporting Variants
SamplesNA18856
Known GenesKRT76
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8957309
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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