A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589111



Internal ID6629402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399619..231410298hg38UCSC Ensembl
Innerchr1:231399619..231410298hg38UCSC Ensembl
Outerchr1:231399251..231410682hg38UCSC Ensembl
chr1:231535365..231546044hg19UCSC Ensembl
Innerchr1:231535365..231546044hg19UCSC Ensembl
Outerchr1:231534997..231546428hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810680
hg1910680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10318900, essv10318897, essv10318904, essv10318891, essv10318895, essv10318893, essv10318894, essv10318896, essv10318892, essv10318905, essv10318901, essv10318890, essv10318902, essv10318899, essv10318903, essv10318906, essv10318898
SamplesHG00671, HG00729, HG00654, NA18942, NA18614, NA18538, HG01841, HG02364, NA18566, HG00525, NA18536, NA18646, HG00565, NA19072, HG02355, HG00614, HG00656
Known GenesEGLN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589111
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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