A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3994319



Internal ID11420868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203840022..203840022hg38UCSC Ensembl
chr1:203809150..203809150hg19UCSC Ensembl
chr1:202075773..202075773hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38733
hg19733
hg18733
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1633923
Supporting Variants
SamplesHuRef
Known GenesZC3H11A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3994319
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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