A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8812608



Internal ID13687310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64759017..64759017hg38UCSC Ensembl
Innerchr11:64759016..64759018hg38UCSC Ensembl
Outerchr11:64758957..64759067hg38UCSC Ensembl
chr11:64526489..64526489hg19UCSC Ensembl
Innerchr11:64526488..64526490hg19UCSC Ensembl
Outerchr11:64526429..64526539hg19UCSC Ensembl
chr11:64283065..64283065hg18UCSC Ensembl
Innerchr11:64283066..64283064hg18UCSC Ensembl
Outerchr11:64283005..64283115hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3337325
Supporting Variants
SamplesNA12878
Known GenesPYGM
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8812608
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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