A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34258



Internal ID12990297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167930154..168195239hg38UCSC Ensembl
Innerchr6:168330834..168595919hg19UCSC Ensembl
Innerchr6:168073683..168338768hg18UCSC Ensembl
Innerchr6:168149390..168414475hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38265086
hg19265086
hg18265086
hg17265086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv218e55
Supporting Variantsessv6978789, essv6978790, essv6986708, essv6978791
SamplesNA12249
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)esv34258
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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