A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577363



Internal ID7048745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1489293..1489293hg38UCSC Ensembl
chr7:1528929..1528929hg19UCSC Ensembl
chr7:1495455..1495455hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010068
Supporting Variants
SamplesHuRef
Known GenesINTS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577363
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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