A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594682



Internal ID6982002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233744643..233756464hg38UCSC Ensembl
Innerchr2:233745143..233755964hg38UCSC Ensembl
Outerchr2:233743643..233757464hg38UCSC Ensembl
chr2:234653289..234665110hg19UCSC Ensembl
Innerchr2:234653789..234664610hg19UCSC Ensembl
Outerchr2:234652289..234666110hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3811822
hg1911822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10879766, essv10879762, essv10879764, essv10879758, essv10879765, essv10879760, essv10879763, essv10879761, essv10879767, essv10879759, essv10879756, essv10879757
SamplesHG02944, HG01462, HG03246, HG03479, NA19383, NA19908, NA18934, NA19320, HG03391, NA18517, HG00256, HG03129
Known GenesLOC100286922, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594682
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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