A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1123070



Internal ID11939507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180323869..180324193hg38UCSC Ensembl
chr1:180293004..180293328hg19UCSC Ensembl
chr1:178559627..178559951hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3850999
SamplesHuRef
Known GenesACBD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1123070
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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