A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161321



Internal ID7906035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238278661..238484562hg38UCSC Ensembl
Innerchr1:238441961..238647862hg19UCSC Ensembl
Innerchr1:236508584..236714485hg18UCSC Ensembl
Innerchr1:234768002..234973903hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38205902
hg19205902
hg18205902
hg17205902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422256
Supporting Variants
SamplesND03770
Known GenesLINC01139
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161321
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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