A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3593713



Internal ID12168155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168538967..168539279hg38UCSC Ensembl
chr2:169395477..169395789hg19UCSC Ensembl
chr2:169103723..169104035hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1682076
Supporting Variants
SamplesHuRef
Known GenesCERS6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3593713
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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