A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13468685



Internal ID3470501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39089692..39125236hg38UCSC Ensembl
chr9:39089689..39125233hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3835545
hg1935545
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620450
Supporting Variants
SamplesNA12878
Known GenesCNTNAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13468685
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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