A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8957313



Internal ID13516050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55296055..55296072hg38UCSC Ensembl
Innerchr12:55296060..55296067hg38UCSC Ensembl
Outerchr12:55296043..55296084hg38UCSC Ensembl
chr12:55689839..55689856hg19UCSC Ensembl
Innerchr12:55689844..55689851hg19UCSC Ensembl
Outerchr12:55689827..55689868hg19UCSC Ensembl
chr12:53976106..53976123hg18UCSC Ensembl
Innerchr12:53976118..53976111hg18UCSC Ensembl
Outerchr12:53976094..53976135hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362019
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8957313
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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