A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1112742



Internal ID11929180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93822819..93825703hg38UCSC Ensembl
chr1:94288375..94291259hg19UCSC Ensembl
chr1:94060963..94063847hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382885
hg192885
hg182885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3749755
SamplesHuRef
Known GenesBCAR3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1112742
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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