A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16229462



Internal ID1806669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63261571..63267514hg38UCSC Ensembl
Innerchr20:63261592..63267494hg38UCSC Ensembl
Outerchr20:63261551..63267535hg38UCSC Ensembl
chr20:61892923..61898866hg19UCSC Ensembl
Innerchr20:61892944..61898846hg19UCSC Ensembl
Outerchr20:61892903..61898887hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg385944
hg195944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646308
Supporting Variants
SamplesHG01680
Known GenesFLJ16779
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16229462
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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