A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1296377



Internal ID12112814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:5812159..5812159hg38UCSC Ensembl
chr4:5813886..5813886hg19UCSC Ensembl
chr4:5864787..5864787hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3648898
SamplesHuRef
Known GenesEVC
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1296377
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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