A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3830506



Internal ID11931365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:41558261..41558261hg38UCSC Ensembl
chr8:41415780..41415780hg19UCSC Ensembl
chr8:41534937..41534937hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1225483
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3830506
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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