A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3589150



Internal ID12172718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64388727..64388727hg38UCSC Ensembl
chr6:65098620..65098620hg19UCSC Ensembl
chr6:65155341..65155341hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg381238
hg191238
hg181238
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1722623
Supporting Variants
SamplesHuRef
Known GenesEYS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3589150
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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