A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1152452



Internal ID12315575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112139319..112139670hg38UCSC Ensembl
chr2:112896896..112897247hg19UCSC Ensembl
chr2:112613367..112613718hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38352
hg19352
hg18352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4118938
SamplesHuRef
Known GenesFBLN7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1152452
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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