A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4297636



Internal ID11233488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89619507..89619507hg38UCSC Ensembl
chr16:89685915..89685915hg19UCSC Ensembl
chr16:88213416..88213416hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1355826
Supporting Variants
SamplesHuRef
Known GenesDPEP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4297636
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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