A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4228599



Internal ID11511137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86504441..86504441hg38UCSC Ensembl
chr10:88264198..88264198hg19UCSC Ensembl
chr10:88254178..88254178hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg383511
hg193511
hg183511
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1688003
Supporting Variants
SamplesHuRef
Known GenesWAPAL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4228599
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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