A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16180422



Internal ID6182238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38264344..38392152hg38UCSC Ensembl
chr20:36892746..37020794hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38127809
hg19128049
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645775
Supporting Variants
SamplesNA19454
Known GenesBPI, LBP, LOC149684
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16180422
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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