A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752100



Internal ID12638966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167823607..168226390hg38UCSC Ensembl
Innerchr6:168224287..168627070hg19UCSC Ensembl
Innerchr6:167967136..168369919hg18UCSC Ensembl
Innerchr6:168042843..168445626hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38402784
hg19402784
hg18402784
hg17402784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217e55
Supporting Variantsessv6987594, essv6984428, essv6984429, essv6984427
SamplesBEC_705
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4, MLLT4-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752100
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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