A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626834



Internal ID6666982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74225600..74828943hg38UCSC Ensembl
Innerchr11:74225750..74828793hg38UCSC Ensembl
Outerchr11:74225450..74829093hg38UCSC Ensembl
chr11:73936645..74539988hg19UCSC Ensembl
Innerchr11:73936795..74539838hg19UCSC Ensembl
Outerchr11:73936495..74540138hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38603344
hg19603344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv209e214
Supporting Variantsessv14212843, essv14212839, essv14212840, essv14212841, essv14212844, essv14212842
SamplesHG00266, HG02634, NA19917, HG00403, NA18582, HG00142
Known GenesCHRDL2, KCNE3, LIPT2, MIR4696, P4HA3, PGM2L1, POLD3, PPME1, RNF169
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626834
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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