A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1682076



Internal ID12845194
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3593713
SamplesHuRef
Known GenesCERS6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1682076
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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