A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981372



Internal ID12626557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167823764..168194764hg38UCSC Ensembl
Innerchr6:168224444..168595444hg19UCSC Ensembl
Innerchr6:167967293..168338293hg18UCSC Ensembl
Innerchr6:168043000..168414000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38371001
hg19371001
hg18371001
hg17371001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752101
Supporting Variants
SamplesBEC_395
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4, MLLT4-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981372
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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