A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646037



Internal ID6686096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49842258..49857272hg38UCSC Ensembl
chr20:48458795..48473809hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3815015
hg1915015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198986
SamplesHG01197
Known GenesSLC9A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646037
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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