A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4292985



Internal ID11228837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70845663..70845663hg38UCSC Ensembl
chr10:72605420..72605420hg19UCSC Ensembl
chr10:72275426..72275426hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1086437
Supporting Variants
SamplesHuRef
Known GenesSGPL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4292985
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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