A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198251



Internal ID3151493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:48528501..48529177hg38UCSC Ensembl
Innerchr20:48528504..48529174hg38UCSC Ensembl
Outerchr20:48528498..48529180hg38UCSC Ensembl
chr20:47145039..47145715hg19UCSC Ensembl
Innerchr20:47145042..47145712hg19UCSC Ensembl
Outerchr20:47145036..47145718hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645996
Supporting Variants
SamplesHG02774
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198251
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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