A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4301526



Internal ID11237378
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1175822
Supporting Variants
SamplesHuRef
Known GenesAHRR, PDCD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4301526
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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