A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4012280



Internal ID11749593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:8484625..8484625hg38UCSC Ensembl
chr9:8484625..8484625hg19UCSC Ensembl
chr9:8474625..8474625hg18UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1627386
Supporting Variants
SamplesHuRef
Known GenesPTPRD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4012280
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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