A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4046400



Internal ID11715474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36957454..36957454hg38UCSC Ensembl
chr1:37423055..37423055hg19UCSC Ensembl
chr1:37195642..37195642hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1102722
Supporting Variants
SamplesHuRef
Known GenesGRIK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4046400
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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