A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16204617



Internal ID3473270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:53628609..53630564hg38UCSC Ensembl
Innerchr20:53629109..53630064hg38UCSC Ensembl
Outerchr20:53627609..53631564hg38UCSC Ensembl
chr20:52245148..52247103hg19UCSC Ensembl
Innerchr20:52245648..52246603hg19UCSC Ensembl
Outerchr20:52244148..52248103hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381956
hg191956
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646119
Supporting Variants
SamplesHG03088
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16204617
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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