A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4274533



Internal ID11210385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72609878..72609878hg38UCSC Ensembl
chr11:72320922..72320922hg19UCSC Ensembl
chr11:71998570..71998570hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1200915
Supporting Variants
SamplesHuRef
Known GenesPDE2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4274533
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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