A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001577



Internal ID7066701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181045295..181046721hg38UCSC Ensembl
Outerchr5:180472295..180473721hg19UCSC Ensembl
Outerchr5:180404901..180406327hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384564
hg194564
hg184564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564937
SamplesHuRef
Known GenesBTNL9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001577
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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