A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4347624



Internal ID11283476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:90008472..90008594hg38UCSC Ensembl
chr16:90074880..90075002hg19UCSC Ensembl
chr16:88602381..88602503hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38123
hg19123
hg18123
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1361959
Supporting Variants
SamplesHuRef
Known GenesDBNDD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4347624
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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