A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3834377



Internal ID11927494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86985401..86985467hg38UCSC Ensembl
chr1:87451084..87451150hg19UCSC Ensembl
chr1:87223672..87223738hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1704081
Supporting Variants
SamplesHuRef
Known GenesHS2ST1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3834377
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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