A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4013071



Internal ID11748802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127317194..127317318hg38UCSC Ensembl
chr8:128329439..128329563hg19UCSC Ensembl
chr8:128398621..128398745hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38125
hg19125
hg18125
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1217766
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4013071
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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