A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4233199



Internal ID11515737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31316044..31316236hg38UCSC Ensembl
chr16:31327365..31327557hg19UCSC Ensembl
chr16:31234866..31235058hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1039007
Supporting Variants
SamplesHuRef
Known GenesITGAM
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4233199
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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