A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1133148



Internal ID12296271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37009617..37009673hg38UCSC Ensembl
chr3:37051108..37051164hg19UCSC Ensembl
chr3:37026112..37026168hg18UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4352025
SamplesHuRef
Known GenesMLH1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1133148
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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