A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4223724



Internal ID11159576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2256032..2256032hg38UCSC Ensembl
chr12:2365198..2365198hg19UCSC Ensembl
chr12:2235459..2235459hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382700
hg192700
hg182700
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1308691
Supporting Variants
SamplesHuRef
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4223724
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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