A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4049461



Internal ID11712413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92488570..92488722hg38UCSC Ensembl
chr14:92954914..92955066hg19UCSC Ensembl
chr14:92024667..92024819hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1013454
Supporting Variants
SamplesHuRef
Known GenesSLC24A4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4049461
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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