A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604159



Internal ID6991189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17342579..17357176hg38UCSC Ensembl
Innerchr5:17343079..17356676hg38UCSC Ensembl
Outerchr5:17341579..17358176hg38UCSC Ensembl
chr5:17342688..17357285hg19UCSC Ensembl
Innerchr5:17343188..17356785hg19UCSC Ensembl
Outerchr5:17341688..17358285hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg3814598
hg1914598
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11821340, essv11821338, essv11821336, essv11821334, essv11821337, essv11821330, essv11821339, essv11821335, essv11821331, essv11821333, essv11821332
SamplesHG00238, NA12762, HG00262, HG00159, HG01133, NA12828, HG01684, NA20126, HG00157, HG01680, HG01085
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604159
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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