A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1431944



Internal ID12595067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4138083..4138083hg38UCSC Ensembl
chr11:4159313..4159313hg19UCSC Ensembl
chr11:4115889..4115889hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4041100
SamplesHuRef
Known GenesRRM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1431944
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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