A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212167



Internal ID4213983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73213163..73237183hg38UCSC Ensembl
chr11:72924208..72948228hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3824021
hg1924021
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626812
Supporting Variants
SamplesHG02819
Known GenesP2RY2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14212167
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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