A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1696538



Internal ID12512970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124912038..124912494hg38UCSC Ensembl
chr12:125396584..125397040hg19UCSC Ensembl
chr12:123962537..123962993hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38457
hg19457
hg18457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3727121
SamplesHuRef
Known GenesUBC
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1696538
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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