A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1288084



Internal ID12104520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:519327..520280hg38UCSC Ensembl
chr6:519327..520280hg19UCSC Ensembl
chr6:464327..465280hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38954
hg19954
hg18954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4227485
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1288084
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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