A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1608257



Internal ID12771377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39706275..39706275hg38UCSC Ensembl
chr13:40280412..40280412hg19UCSC Ensembl
chr13:39178412..39178412hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4107958
SamplesHuRef
Known GenesCOG6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1608257
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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