A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1612380



Internal ID12428814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83892563..83892619hg38UCSC Ensembl
chr1:84358246..84358302hg19UCSC Ensembl
chr1:84130834..84130890hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3596406
SamplesHuRef
Known GenesMIR548AP, TTLL7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1612380
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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