A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1343800



Internal ID12160236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:99849648..99849698hg38UCSC Ensembl
chr6:100297524..100297574hg19UCSC Ensembl
chr6:100404245..100404295hg18UCSC Ensembl
Cytoband6q16.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3814505
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1343800
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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