A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3962519



Internal ID11452667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:72601175..72601175hg38UCSC Ensembl
chr11:72312219..72312219hg19UCSC Ensembl
chr11:71989867..71989867hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg381722
hg191722
hg181722
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1163550
Supporting Variants
SamplesHuRef
Known GenesPDE2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3962519
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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