A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3632300



Internal ID12129568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231733096..231733096hg38UCSC Ensembl
chr1:231868842..231868842hg19UCSC Ensembl
chr1:229935465..229935465hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1761772
Supporting Variants
SamplesHuRef
Known GenesDISC1, TSNAX-DISC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3632300
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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