A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871310



Internal ID6770085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37909979..37927663hg38UCSC Ensembl
Innerchr5:37909979..37927663hg38UCSC Ensembl
Outerchr5:37909479..37928163hg38UCSC Ensembl
chr5:37910081..37927765hg19UCSC Ensembl
Innerchr5:37910081..37927765hg19UCSC Ensembl
Outerchr5:37909581..37928265hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3817685
hg1917685
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604757
Supporting Variants
SamplesNA20875
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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