A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11913609



Internal ID510069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57421427..57432311hg38UCSC Ensembl
Innerchr5:57421927..57431811hg38UCSC Ensembl
Outerchr5:57420427..57433311hg38UCSC Ensembl
chr5:56717254..56728138hg19UCSC Ensembl
Innerchr5:56717754..56727638hg19UCSC Ensembl
Outerchr5:56716254..56729138hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3810885
hg1910885
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605135
Supporting Variants
SamplesHG00182
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11913609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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