A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3596406



Internal ID11818776
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1612380
Supporting Variants
SamplesHuRef
Known GenesMIR548AP, TTLL7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3596406
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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