A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3631233



Internal ID12130635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101358752..101359085hg38UCSC Ensembl
chr2:101975214..101975547hg19UCSC Ensembl
chr2:101341646..101341979hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1298629
Supporting Variants
SamplesHuRef
Known GenesCREG2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3631233
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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