A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12021912



Internal ID3876629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111568130..111578077hg38UCSC Ensembl
Innerchr5:111568130..111578077hg38UCSC Ensembl
Outerchr5:111567881..111578322hg38UCSC Ensembl
chr5:110903828..110913774hg19UCSC Ensembl
Innerchr5:110903828..110913774hg19UCSC Ensembl
Outerchr5:110903579..110914019hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg389948
hg199947
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606276
Supporting Variants
SamplesHG03518
Known GenesSTARD4-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12021912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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