A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12819272



Internal ID5250701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66533814..66544696hg38UCSC Ensembl
chr7:65998801..66009683hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3810883
hg1910883
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613512
Supporting Variants
SamplesNA18634
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12819272
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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