A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1765773



Internal ID12582205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143285082..143285147hg38UCSC Ensembl
chr5:142664647..142664712hg19UCSC Ensembl
chr5:142644840..142644905hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3741372
SamplesHuRef
Known GenesNR3C1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1765773
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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