A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1213858



Internal ID12030295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:156490970..156491019hg38UCSC Ensembl
chr2:157347482..157347531hg19UCSC Ensembl
chr2:157055728..157055777hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4232825
SamplesHuRef
Known GenesGPD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1213858
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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