A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16197487



Internal ID6199303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47710218..47710717hg38UCSC Ensembl
Innerchr20:47710219..47710716hg38UCSC Ensembl
Outerchr20:47710217..47710718hg38UCSC Ensembl
chr20:46338962..46339461hg19UCSC Ensembl
Innerchr20:46338963..46339460hg19UCSC Ensembl
Outerchr20:46338961..46339462hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645974
Supporting Variants
SamplesNA19448
Known GenesSULF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16197487
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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