A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986652



Internal ID12632106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167208582..167399010hg38UCSC Ensembl
Innerchr6:167622070..167812498hg19UCSC Ensembl
Innerchr6:167542060..167732488hg18UCSC Ensembl
Innerchr6:167592481..167782909hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38190429
hg19190429
hg18190429
hg17190429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34252
Supporting Variants
SamplesNA12004
Known GenesTCP10, TTLL2, UNC93A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986652
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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