A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4366287



Internal ID11302139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36429285..36429285hg38UCSC Ensembl
chr6:36397062..36397062hg19UCSC Ensembl
chr6:36505040..36505040hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38399
hg19399
hg18399
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1649787
Supporting Variants
SamplesHuRef
Known GenesPXT1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4366287
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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