A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4304758



Internal ID11587296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131367462..131367462hg38UCSC Ensembl
chr12:131852007..131852007hg19UCSC Ensembl
chr12:130417960..130417960hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38268
hg19268
hg18268
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1215892
Supporting Variants
SamplesHuRef
Known GenesLOC338797
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4304758
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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