A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11732424



Internal ID6038522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183562968..183566954hg38UCSC Ensembl
Innerchr4:183562968..183566954hg38UCSC Ensembl
Outerchr4:183562750..183567162hg38UCSC Ensembl
chr4:184484121..184488107hg19UCSC Ensembl
Innerchr4:184484121..184488107hg19UCSC Ensembl
Outerchr4:184483903..184488315hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg383987
hg193987
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603442
Supporting Variants
SamplesNA19440
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11732424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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