A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4133495



Internal ID11416034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:77267440..77267440hg38UCSC Ensembl
chr12:77661220..77661220hg19UCSC Ensembl
chr12:76185351..76185351hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38183
hg19183
hg18183
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1635664
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4133495
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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