A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673542



Internal ID9939647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40228218..40228515hg38UCSC Ensembl
chr1:40693890..40694187hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5437336, essv6226454, essv6205172, essv5947498, essv5777600, essv5638655, essv5973351, essv5466579, essv5416302, essv5968021, essv5669428, essv6476944, essv6216851, essv6451325, essv5897903, essv5574680, essv5687397
SamplesHG00592, HG00654, HG00663, NA18635, NA18574, HG00335, NA18638, NA18637, NA18532, NA18576, NA18953, NA19003, HG00476, HG00625, HG00662, HG00472, NA18549
Known GenesRLF
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673542
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer