A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3645677



Internal ID7032426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33094216..33106994hg38UCSC Ensembl
Innerchr20:33094237..33106973hg38UCSC Ensembl
Outerchr20:33094195..33107015hg38UCSC Ensembl
chr20:31682022..31694800hg19UCSC Ensembl
Innerchr20:31682043..31694779hg19UCSC Ensembl
Outerchr20:31682001..31694821hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3812779
hg1912779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16175342
SamplesNA19010
Known GenesBPIFB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3645677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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