A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11370916



Internal ID5071442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:24991326..24993657hg38UCSC Ensembl
Innerchr4:24991326..24993657hg38UCSC Ensembl
Outerchr4:24991052..24993933hg38UCSC Ensembl
chr4:24992948..24995279hg19UCSC Ensembl
Innerchr4:24992948..24995279hg19UCSC Ensembl
Outerchr4:24992674..24995555hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg382332
hg192332
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599952
Supporting Variants
SamplesNA18539
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11370916
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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