A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3847349



Internal ID11567836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26775947..26775947hg38UCSC Ensembl
chr12:26928880..26928880hg19UCSC Ensembl
chr12:26820147..26820147hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38108
hg19108
hg18108
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1705858
Supporting Variants
SamplesHuRef
Known GenesITPR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3847349
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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