A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3666464



Internal ID11748719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161874462..161874462hg38UCSC Ensembl
chr6:162295494..162295494hg19UCSC Ensembl
chr6:162215484..162215484hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3882
hg1982
hg1882
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1543709
Supporting Variants
SamplesHuRef
Known GenesPARK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3666464
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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