A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979029



Internal ID12632829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167943158..168182438hg38UCSC Ensembl
Innerchr6:168343838..168583118hg19UCSC Ensembl
Innerchr6:168086687..168325967hg18UCSC Ensembl
Innerchr6:168162394..168401674hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38239281
hg19239281
hg18239281
hg17239281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34861
Supporting Variants
SamplesNA12815
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979029
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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