A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1786342



Internal ID12602776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143433406..143433406hg38UCSC Ensembl
chr5:142812971..142812971hg19UCSC Ensembl
chr5:142793164..142793164hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4075080
SamplesHuRef
Known GenesNR3C1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1786342
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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