A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11315005



Internal ID1316821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:760588..838288hg38UCSC Ensembl
chr4:754376..832076hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3877701
hg1977701
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599381
Supporting Variants
SamplesNA19159
Known GenesCPLX1, LOC100129917, PCGF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11315005
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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