A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4282608



Internal ID11565146
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1548502
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4282608
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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