A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11326178



Internal ID2608690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4942171..4963947hg38UCSC Ensembl
Innerchr4:4942181..4963938hg38UCSC Ensembl
Outerchr4:4942162..4963957hg38UCSC Ensembl
chr4:4943898..4965674hg19UCSC Ensembl
Innerchr4:4943908..4965665hg19UCSC Ensembl
Outerchr4:4943889..4965684hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3821777
hg1921777
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599469
Supporting Variants
SamplesHG02309
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11326178
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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