A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4011592



Internal ID11403595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:77894375..77894375hg38UCSC Ensembl
chr9:80509291..80509291hg19UCSC Ensembl
chr9:79699111..79699111hg18UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1370714
Supporting Variants
SamplesHuRef
Known GenesGNAQ
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4011592
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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