A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3743101



Internal ID12018769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82764893..82764893hg38UCSC Ensembl
chr17:80722769..80722769hg19UCSC Ensembl
chr17:78316058..78316058hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38210
hg19210
hg18210
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1655374
Supporting Variants
SamplesHuRef
Known GenesTBCD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3743101
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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