A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11421319



Internal ID2675462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44818862..44829640hg38UCSC Ensembl
chr4:44820879..44831657hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3810779
hg1910779
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600394
Supporting Variants
SamplesHG02371
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11421319
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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