A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16178647



Internal ID6928364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35259639..35262527hg38UCSC Ensembl
Innerchr20:35259639..35262527hg38UCSC Ensembl
Outerchr20:35259478..35262702hg38UCSC Ensembl
chr20:33847442..33850330hg19UCSC Ensembl
Innerchr20:33847442..33850330hg19UCSC Ensembl
Outerchr20:33847281..33850505hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg382889
hg192889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645713
Supporting Variants
SamplesNA21120
Known GenesMMP24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16178647
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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