A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646015



Internal ID6686074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49534334..49562349hg38UCSC Ensembl
Innerchr20:49534379..49562304hg38UCSC Ensembl
Outerchr20:49534289..49562394hg38UCSC Ensembl
chr20:48150871..48178886hg19UCSC Ensembl
Innerchr20:48150916..48178841hg19UCSC Ensembl
Outerchr20:48150826..48178931hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3828016
hg1928016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198888
SamplesHG01676
Known GenesPTGIS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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