A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984086



Internal ID12630968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162288916..162404070hg38UCSC Ensembl
Innerchr6:162709948..162825102hg19UCSC Ensembl
Innerchr6:162629938..162745092hg18UCSC Ensembl
Innerchr6:162680359..162795513hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38115155
hg19115155
hg18115155
hg17115155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752097
Supporting Variants
SamplesBEC_768
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984086
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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