A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1048357



Internal ID12211482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73875526..73875623hg38UCSC Ensembl
chr8:74787761..74787858hg19UCSC Ensembl
chr8:74950315..74950412hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg3898
hg1998
hg1898
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3792822
SamplesHuRef
Known GenesUBE2W
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1048357
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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