A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985906



Internal ID12984223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934598..168108805hg38UCSC Ensembl
Innerchr6:168335278..168509485hg19UCSC Ensembl
Innerchr6:168078127..168252334hg18UCSC Ensembl
Innerchr6:168153834..168328041hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38174208
hg19174208
hg18174208
hg17174208
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752102
Supporting Variants
SamplesSPC_83
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)essv6985906
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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