A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1778065



Internal ID12594497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2694531..2694531hg38UCSC Ensembl
chr6:2694765..2694765hg19UCSC Ensembl
chr6:2639764..2639764hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3674456
SamplesHuRef
Known GenesMYLK4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1778065
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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