A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4314233



Internal ID11250085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243339090..243339144hg38UCSC Ensembl
chr1:243502392..243502446hg19UCSC Ensembl
chr1:241569015..241569069hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1353364
Supporting Variants
SamplesHuRef
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4314233
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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