A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006218



Internal ID7071311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82009584..82009584hg38UCSC Ensembl
chr17:79967460..79967460hg19UCSC Ensembl
chr17:77560749..77560749hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3566008
SamplesHuRef
Known GenesASPSCR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006218
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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