A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4018144



Internal ID11743729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20767235..20767555hg38UCSC Ensembl
chr16:20778557..20778877hg19UCSC Ensembl
chr16:20686058..20686378hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1388215
Supporting Variants
SamplesHuRef
Known GenesACSM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4018144
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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