A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16218529



Internal ID4095953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56785162..56790060hg38UCSC Ensembl
Innerchr20:56785181..56790041hg38UCSC Ensembl
Outerchr20:56785143..56790079hg38UCSC Ensembl
chr20:55360218..55365116hg19UCSC Ensembl
Innerchr20:55360237..55365097hg19UCSC Ensembl
Outerchr20:55360199..55365135hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg384899
hg194899
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646202
Supporting Variants
SamplesHG03718
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16218529
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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