A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11393288



Internal ID562704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:35103991..35109622hg38UCSC Ensembl
Innerchr4:35104044..35109570hg38UCSC Ensembl
Outerchr4:35103939..35109675hg38UCSC Ensembl
chr4:35105613..35111244hg19UCSC Ensembl
Innerchr4:35105666..35111192hg19UCSC Ensembl
Outerchr4:35105561..35111297hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg385632
hg195632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600188
Supporting Variants
SamplesHG00245
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11393288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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