A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3726029



Internal ID11689155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54466352..54466616hg38UCSC Ensembl
chr2:54693489..54693753hg19UCSC Ensembl
chr2:54546993..54547257hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1689528
Supporting Variants
SamplesHuRef
Known GenesSPTBN1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3726029
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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