A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1749994



Internal ID12566426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215912474..215912536hg38UCSC Ensembl
chr1:216085816..216085878hg19UCSC Ensembl
chr1:214152439..214152501hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4299364
SamplesHuRef
Known GenesUSH2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1749994
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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