A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14212844



Internal ID4214660
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626834
Supporting Variants
SamplesNA19917
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)essv14212844
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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