A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633609



Internal ID7020417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113431952..113440673hg38UCSC Ensembl
Innerchr13:113432102..113440523hg38UCSC Ensembl
Outerchr13:113431802..113440823hg38UCSC Ensembl
chr13:114086267..114094988hg19UCSC Ensembl
Innerchr13:114086417..114094838hg19UCSC Ensembl
Outerchr13:114086117..114095138hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388722
hg198722
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14909050, essv14909053, essv14909048, essv14909052, essv14909051, essv14909049
SamplesHG00699, HG02185, HG02140, HG02085, HG01846, HG01863
Known GenesADPRHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633609
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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