A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574828



Internal ID6699524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66662693..66663070hg38UCSC Ensembl
chr8:67574928..67575305hg19UCSC Ensembl
chr8:67737482..67737859hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv997781
Supporting Variants
SamplesHuRef
Known GenesVCPIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574828
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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