A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007307



Internal ID7072401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48561539..48575769hg38UCSC Ensembl
Outerchr17:46638901..46653131hg19UCSC Ensembl
Outerchr17:43993900..44008130hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3814231
hg1914231
hg1814231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563765
SamplesHuRef
Known GenesHOXB3, HOXB4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007307
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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