A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11583480



Internal ID1060013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118949432..118956769hg38UCSC Ensembl
chr4:119870587..119877924hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg387338
hg197338
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601957
Supporting Variants
SamplesHG00684
Known GenesSYNPO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11583480
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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