A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424879



Internal ID15271836
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 StatusM
Merged Variants
Supporting Variantsessv8957311, essv8957308, essv8957310, essv8957307, essv8957309
SamplesNA18502, NA18856, NA18523, NA18909, NA18505
Known GenesKRT76
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424879
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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