A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1175822



Internal ID11992259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:309634..309634hg38UCSC Ensembl
chr5:309749..309749hg19UCSC Ensembl
chr5:362749..362749hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4301526
SamplesHuRef
Known GenesAHRR, PDCD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1175822
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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