A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620452



Internal ID6660634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:39140769..39206562hg38UCSC Ensembl
chr9:39140766..39206559hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg3865794
hg1965794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13468699, essv13468705, essv13468706, essv13468703, essv13468701, essv13468700, essv13468697, essv13468695, essv13468698, essv13468696, essv13468707, essv13468702, essv13468704
SamplesHG00121, HG01031, HG00699, HG00879, NA12878, HG02887, HG00708, HG00404, HG04159, HG01858, HG01812, HG02391, HG02392
Known GenesCNTNAP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620452
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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