A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4171221



Internal ID11107073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57024783..57024783hg38UCSC Ensembl
chr18:54692014..54692014hg19UCSC Ensembl
chr18:52843012..52843012hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38345
hg19345
hg18345
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1419362
Supporting Variants
SamplesHuRef
Known GenesWDR7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4171221
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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