A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1551216



Internal ID12367651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2946062..2946126hg38UCSC Ensembl
chr4:2947789..2947853hg19UCSC Ensembl
chr4:2917587..2917651hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3765766
SamplesHuRef
Known GenesNOP14, NOP14-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1551216
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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