A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752101



Internal ID12638967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167823764..168206528hg38UCSC Ensembl
Innerchr6:168224444..168607208hg19UCSC Ensembl
Innerchr6:167967293..168350057hg18UCSC Ensembl
Innerchr6:168043000..168425764hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38382765
hg19382765
hg18382765
hg17382765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv217e55
Supporting Variantsessv6981372, essv6981373, essv6981374, essv6981375, essv6985567
SamplesBEC_395
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)esv2752101
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer