A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3733705



Internal ID11681479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18598700..18598700hg38UCSC Ensembl
chr12:18751634..18751634hg19UCSC Ensembl
chr12:18642901..18642901hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1370525
Supporting Variants
SamplesHuRef
Known GenesPIK3C2G
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3733705
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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