A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3824736



Internal ID11590449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89617730..89617730hg38UCSC Ensembl
chr16:89684138..89684138hg19UCSC Ensembl
chr16:88211639..88211639hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1242032
Supporting Variants
SamplesHuRef
Known GenesDPEP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3824736
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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