A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11543127



Internal ID4922954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99760972..99774865hg38UCSC Ensembl
chr4:100682129..100696022hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3813894
hg1913894
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3601560
Supporting Variants
SamplesNA12761
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11543127
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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