A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3781912



Internal ID11979959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55871392..55871392hg38UCSC Ensembl
chr12:56265176..56265176hg19UCSC Ensembl
chr12:54551443..54551443hg18UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1586752
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3781912
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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