A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992041



Internal ID3993857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:732330..768730hg38UCSC Ensembl
Innerchr11:732480..768580hg38UCSC Ensembl
Outerchr11:732180..768880hg38UCSC Ensembl
chr11:732330..768730hg19UCSC Ensembl
Innerchr11:732480..768580hg19UCSC Ensembl
Outerchr11:732180..768880hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3836401
hg1936401
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625077
Supporting Variants
SamplesHG03363
Known GenesPDDC1, TALDO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992041
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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