A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1378524



Internal ID12194960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:15998448..15998448hg38UCSC Ensembl
chr11:16019994..16019994hg19UCSC Ensembl
chr11:15976570..15976570hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3647642
SamplesHuRef
Known GenesSOX6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1378524
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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