A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990307



Internal ID12979370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167930154..168182352hg38UCSC Ensembl
Innerchr6:168330834..168583032hg19UCSC Ensembl
Innerchr6:168073683..168325881hg18UCSC Ensembl
Innerchr6:168149390..168401588hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38252199
hg19252199
hg18252199
hg17252199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34560
Supporting Variants
SamplesNA12802
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990307
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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