A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992143



Internal ID3993959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:756680..767369hg38UCSC Ensembl
chr11:756680..767369hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3810690
hg1910690
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625081
Supporting Variants
SamplesNA18544
Known GenesPDDC1, TALDO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992143
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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