A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3594958



Internal ID12166910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149809183..149809232hg38UCSC Ensembl
chr5:149188746..149188795hg19UCSC Ensembl
chr5:149168939..149168988hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1706104
Supporting Variants
SamplesHuRef
Known GenesPPARGC1B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3594958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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