A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4231258



Internal ID11513796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131282776..131283075hg38UCSC Ensembl
chr5:130618469..130618768hg19UCSC Ensembl
chr5:130646368..130646667hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1652370
Supporting Variants
SamplesHuRef
Known GenesCDC42SE2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4231258
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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