A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3617599



Internal ID12144269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132563765..132563927hg38UCSC Ensembl
chr12:133140351..133140513hg19UCSC Ensembl
chr12:131650424..131650586hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38163
hg19163
hg18163
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1040121
Supporting Variants
SamplesHuRef
Known GenesFBRSL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3617599
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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