A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005760



Internal ID6717880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38803490..38809759hg38UCSC Ensembl
Outerchr17:36959743..36966012hg19UCSC Ensembl
Outerchr17:34213269..34219538hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386270
hg196270
hg186270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564883
SamplesHuRef
Known GenesCWC25
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005760
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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