A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14322752



Internal ID1307559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134476474..134743454hg38UCSC Ensembl
chr11:134346368..134613348hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38266981
hg19266981
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628175
Supporting Variants
SamplesHG01142
Known GenesLOC283177
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14322752
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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