A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571023



Internal ID6695719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92701961..92701961hg38UCSC Ensembl
chr1:93167518..93167518hg19UCSC Ensembl
chr1:92940106..92940106hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38327
hg19327
hg18327
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001160
Supporting Variants
SamplesHuRef
Known GenesEVI5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571023
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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