A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587301



Internal ID6974728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116288677..116293477hg38UCSC Ensembl
Innerchr1:116288677..116293477hg38UCSC Ensembl
Outerchr1:116288509..116293724hg38UCSC Ensembl
chr1:116831299..116836099hg19UCSC Ensembl
Innerchr1:116831299..116836099hg19UCSC Ensembl
Outerchr1:116831131..116836346hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10081127, essv10081118, essv10081126, essv10081123, essv10081121, essv10081130, essv10081122, essv10081124, essv10081131, essv10081116, essv10081119, essv10081128, essv10081129, essv10081125, essv10081117, essv10081120
SamplesHG01402, NA18486, NA19107, HG02505, NA19041, HG03380, HG02946, HG03120, HG02977, NA19437, HG03160, HG03291, HG03311, NA19321, HG03279, NA19185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587301
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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