A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16107611



Internal ID2316843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:547926..556819hg38UCSC Ensembl
Innerchr20:548426..556319hg38UCSC Ensembl
Outerchr20:546926..557819hg38UCSC Ensembl
chr20:528570..537463hg19UCSC Ensembl
Innerchr20:529070..536963hg19UCSC Ensembl
Outerchr20:527570..538463hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg388894
hg198894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644957
Supporting Variants
SamplesHG02061
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16107611
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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