A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595568



Internal ID6982886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:23871698..23872999hg38UCSC Ensembl
Innerchr3:23871707..23872991hg38UCSC Ensembl
Outerchr3:23871690..23873008hg38UCSC Ensembl
chr3:23913189..23914490hg19UCSC Ensembl
Innerchr3:23913198..23914482hg19UCSC Ensembl
Outerchr3:23913181..23914499hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10949565, essv10949563, essv10949564, essv10949566, essv10949561, essv10949562
SamplesHG00956, NA18593, NA18564, HG00623, HG02113, NA18620
Known GenesUBE2E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595568
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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