A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11621059



Internal ID570890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:136599288..136620289hg38UCSC Ensembl
Innerchr4:136599316..136620261hg38UCSC Ensembl
Outerchr4:136599260..136620317hg38UCSC Ensembl
chr4:137520443..137541444hg19UCSC Ensembl
Innerchr4:137520471..137541416hg19UCSC Ensembl
Outerchr4:137520415..137541472hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3821002
hg1921002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3602371
Supporting Variants
SamplesHG00251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11621059
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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