A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608657



Internal ID6995581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34371977..34373390hg38UCSC Ensembl
Innerchr6:34371977..34373390hg38UCSC Ensembl
Outerchr6:34371909..34373537hg38UCSC Ensembl
chr6:34339754..34341167hg19UCSC Ensembl
Innerchr6:34339754..34341167hg19UCSC Ensembl
Outerchr6:34339686..34341314hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381414
hg191414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12312833, essv12312843, essv12312827, essv12312819, essv12312846, essv12312818, essv12312823, essv12312832, essv12312839, essv12312836, essv12312848, essv12312837, essv12312822, essv12312817, essv12312834, essv12312850, essv12312825, essv12312842, essv12312824, essv12312835, essv12312828, essv12312820, essv12312838, essv12312829, essv12312849, essv12312821, essv12312826, essv12312816, essv12312830, essv12312844, essv12312845, essv12312847, essv12312840, essv12312831, essv12312841
SamplesNA18745, HG00442, NA18639, HG01806, HG02154, HG02356, HG01873, NA18550, HG02156, HG01816, HG02374, NA18949, HG02187, HG02047, HG02070, HG02152, HG02390, HG00583, HG00844, HG02184, HG02031, HG02399, HG01811, NA18543, HG02088, HG00473, HG02181, HG02398, HG02379, HG02401, HG01868, HG00656, HG01869, HG01805, NA18562
Known GenesNUDT3, RPS10-NUDT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608657
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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