A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4217978



Internal ID11153830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7028488..7028488hg38UCSC Ensembl
chr17:6931807..6931807hg19UCSC Ensembl
chr17:6872531..6872531hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1378459
Supporting Variants
SamplesHuRef
Known GenesBCL6B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4217978
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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