A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605543



Internal ID6972473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79656268..79664207hg38UCSC Ensembl
Innerchr5:79656768..79663707hg38UCSC Ensembl
Outerchr5:79655268..79665207hg38UCSC Ensembl
chr5:78952091..78960030hg19UCSC Ensembl
Innerchr5:78952591..78959530hg19UCSC Ensembl
Outerchr5:78951091..78961030hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg387940
hg197940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11953057, essv11953055, essv11953050, essv11953039, essv11953037, essv11953044, essv11953041, essv11953043, essv11953046, essv11953056, essv11953049, essv11953058, essv11953059, essv11953060, essv11953047, essv11953038, essv11953042, essv11953053, essv11953061, essv11953052, essv11953040, essv11953054, essv11953051, essv11953048, essv11953045
SamplesHG00542, NA18980, HG02122, NA18641, HG02017, HG03372, HG02130, HG02085, HG00537, HG01849, NA18990, HG02180, HG00629, HG02025, NA18991, HG00583, HG00692, NA18626, NA18532, NA18632, HG01878, HG02064, HG00580, HG00478, HG00698
Known GenesPAPD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605543
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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