A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602107



Internal ID6989141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:126012536..126139908hg38UCSC Ensembl
Innerchr4:126013036..126139408hg38UCSC Ensembl
Outerchr4:126011536..126140908hg38UCSC Ensembl
chr4:126933691..127061063hg19UCSC Ensembl
Innerchr4:126934191..127060563hg19UCSC Ensembl
Outerchr4:126932691..127062063hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38127373
hg19127373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11595353
SamplesHG01918
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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