A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11595353



Internal ID2107491
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602107
Supporting Variants
SamplesHG01918
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11595353
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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