A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13622747



Internal ID3624563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127910583..127923777hg38UCSC Ensembl
chr9:130672862..130686056hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3813195
hg1913195
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621797
Supporting Variants
SamplesNA18639
Known GenesPIP5KL1, ST6GALNAC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13622747
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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