A curated catalogue of human genomic structural variation




Variant Details

Variant: esv29979



Internal ID12954859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:19408886..20481173hg38UCSC Ensembl
Innerchr2:19608647..20680934hg19UCSC Ensembl
Innerchr2:19472128..20544415hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381072288
hg191072288
hg181072288
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv84218
SamplesHuRef
Known GenesLAPTM4A, LINC00954, MATN3, PUM2, RHOB, SDC1, TTC32, WDR35
MethodMerging
AnalysisNo Reference, merging experiment
PlatformNot Reported
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv29979
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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