A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11747378



Internal ID4139322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:186875767..186977150hg38UCSC Ensembl
chr4:187796921..187898304hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38101384
hg19101384
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603542
Supporting Variants
SamplesHG03750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11747378
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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