A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4020537



Internal ID11394650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:87845530..87845530hg38UCSC Ensembl
chr16:87879136..87879136hg19UCSC Ensembl
chr16:86436637..86436637hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1188587
Supporting Variants
SamplesHuRef
Known GenesSLC7A5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4020537
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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