A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13511552



Internal ID3513368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69712247..69717695hg38UCSC Ensembl
chr9:72327163..72332611hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg385449
hg195449
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620566
Supporting Variants
SamplesNA19735
Known GenesPTAR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13511552
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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