A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4124248



Internal ID11406787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67825658..67825658hg38UCSC Ensembl
chr10:69585416..69585416hg19UCSC Ensembl
chr10:69255422..69255422hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1143947
Supporting Variants
SamplesHuRef
Known GenesDNAJC12
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4124248
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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