A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607981



Internal ID6994912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5728202..5729716hg38UCSC Ensembl
Innerchr6:5728202..5729716hg38UCSC Ensembl
Outerchr6:5727876..5730032hg38UCSC Ensembl
chr6:5728435..5729949hg19UCSC Ensembl
Innerchr6:5728435..5729949hg19UCSC Ensembl
Outerchr6:5728109..5730265hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381515
hg191515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12180083, essv12180076, essv12180071, essv12180086, essv12180080, essv12180079, essv12180081, essv12180072, essv12180082, essv12180074, essv12180069, essv12180084, essv12180085, essv12180078, essv12180073, essv12180075, essv12180077, essv12180070
SamplesHG00699, HG01802, NA18962, NA18602, NA18547, NA18964, HG00683, NA18560, NA18617, HG00543, HG02075, HG00557, NA18644, HG00684, NA18559, HG02049, HG01861, HG01863
Known GenesFARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607981
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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