A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3699997



Internal ID11715187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133445152..133445152hg38UCSC Ensembl
chr11:133315047..133315047hg19UCSC Ensembl
chr11:132820257..132820257hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1173177
Supporting Variants
SamplesHuRef
Known GenesOPCML
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3699997
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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