A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16198900



Internal ID866644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49718705..49726447hg38UCSC Ensembl
Innerchr20:49718755..49726397hg38UCSC Ensembl
Outerchr20:49718643..49726509hg38UCSC Ensembl
chr20:48335242..48342984hg19UCSC Ensembl
Innerchr20:48335292..48342934hg19UCSC Ensembl
Outerchr20:48335180..48343046hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387743
hg197743
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646024
Supporting Variants
SamplesHG00457
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16198900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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