A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4142922



Internal ID11425460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9353238..9353320hg38UCSC Ensembl
chr5:9353350..9353432hg19UCSC Ensembl
chr5:9406350..9406432hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3883
hg1983
hg1883
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1762654
Supporting Variants
SamplesHuRef
Known GenesSEMA5A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4142922
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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