A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1548502



Internal ID12711624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54323723..54323805hg38UCSC Ensembl
chr14:54790441..54790523hg19UCSC Ensembl
chr14:53860191..53860273hg18UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4282608
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1548502
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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