A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3795857



Internal ID11619328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88728550..88728805hg38UCSC Ensembl
chr16:88794958..88795213hg19UCSC Ensembl
chr16:87322459..87322714hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38256
hg19256
hg18256
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1041922
Supporting Variants
SamplesHuRef
Known GenesPIEZO1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3795857
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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