A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11821246



Internal ID5991867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17077235..17078520hg38UCSC Ensembl
Innerchr5:17077235..17078520hg38UCSC Ensembl
Outerchr5:17077005..17078756hg38UCSC Ensembl
chr5:17077344..17078629hg19UCSC Ensembl
Innerchr5:17077344..17078629hg19UCSC Ensembl
Outerchr5:17077114..17078865hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381286
hg191286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604151
Supporting Variants
SamplesNA19394
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11821246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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