A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16141898



Internal ID1844291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:10285663..10287551hg38UCSC Ensembl
Innerchr20:10285663..10287551hg38UCSC Ensembl
Outerchr20:10285537..10287669hg38UCSC Ensembl
chr20:10266311..10268199hg19UCSC Ensembl
Innerchr20:10266311..10268199hg19UCSC Ensembl
Outerchr20:10266185..10268317hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg381889
hg191889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645206
Supporting Variants
SamplesHG01709
Known GenesSNAP25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16141898
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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