A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1485304



Internal ID12648426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81425884..81425969hg38UCSC Ensembl
chr17:79399684..79399769hg19UCSC Ensembl
chr17:77014279..77014364hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4278094
SamplesHuRef
Known GenesBAHCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1485304
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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