A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670085



Internal ID9936190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:19248681..19251450hg38UCSC Ensembl
Outerchr20:19248644..19251502hg38UCSC Ensembl
Innerchr20:19229325..19232094hg19UCSC Ensembl
Outerchr20:19229288..19232146hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382859
hg192859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6517388, essv5830815
SamplesHG00524, HG00512
Known GenesLOC100130264, SLC24A3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670085
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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