A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3595712



Internal ID12166156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:891778..891778hg38UCSC Ensembl
chr17:795018..795018hg19UCSC Ensembl
chr17:741768..741768hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1781837
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3595712
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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