A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11913520



Internal ID5332246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57108542..57109776hg38UCSC Ensembl
Innerchr5:57108588..57109731hg38UCSC Ensembl
Outerchr5:57108497..57109822hg38UCSC Ensembl
chr5:56404369..56405603hg19UCSC Ensembl
Innerchr5:56404415..56405558hg19UCSC Ensembl
Outerchr5:56404324..56405649hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605130
Supporting Variants
SamplesNA18873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11913520
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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