A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1476529



Internal ID12292965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:501157..501418hg38UCSC Ensembl
chr6:501157..501418hg19UCSC Ensembl
chr6:446157..446418hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38262
hg19262
hg18262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3737311
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1476529
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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