A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1201127



Internal ID12017564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5076275..5076275hg38UCSC Ensembl
chr19:5076286..5076286hg19UCSC Ensembl
chr19:5027286..5027286hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38406
hg19406
hg18406
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4150149
SamplesHuRef
Known GenesKDM4B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1201127
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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