A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1352346



Internal ID12168782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3892420..3892512hg38UCSC Ensembl
chr1:3808984..3809076hg19UCSC Ensembl
chr1:3798844..3798936hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4067715
SamplesHuRef
Known GenesC1orf174
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1352346
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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