A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3701230



Internal ID11713954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5144410..5144410hg38UCSC Ensembl
chr19:5144421..5144421hg19UCSC Ensembl
chr19:5095421..5095421hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38225
hg19225
hg18225
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1690767
Supporting Variants
SamplesHuRef
Known GenesKDM4B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3701230
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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