A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3810582



Internal ID11604603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1908767..1908884hg38UCSC Ensembl
chr12:2017933..2018050hg19UCSC Ensembl
chr12:1888194..1888311hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1036258
Supporting Variants
SamplesHuRef
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3810582
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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