A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4187820



Internal ID11470358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27918657..27918711hg38UCSC Ensembl
chr8:27776174..27776228hg19UCSC Ensembl
chr8:27832093..27832147hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1383761
Supporting Variants
SamplesHuRef
Known GenesSCARA5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4187820
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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