A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987849



Internal ID12625309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161858166..161881366hg38UCSC Ensembl
Innerchr6:162279198..162302398hg19UCSC Ensembl
Innerchr6:162199188..162222388hg18UCSC Ensembl
Innerchr6:162249609..162272809hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3823201
hg1923201
hg1823201
hg1723201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752092
Supporting Variants
SamplesBEC_158
Known GenesPARK2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987849
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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