A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11872062



Internal ID1873878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39235417..39382661hg38UCSC Ensembl
chr5:39235519..39382763hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38147245
hg19147245
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604783
Supporting Variants
SamplesNA12717
Known GenesC9, DAB2, FYB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11872062
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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