A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752089



Internal ID12985641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124021518..124162691hg38UCSC Ensembl
Innerchr6:124342663..124483836hg19UCSC Ensembl
Innerchr6:124384362..124525535hg18UCSC Ensembl
Innerchr6:124384362..124525535hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38141174
hg19141174
hg18141174
hg17141174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989607, essv6982316
SamplesBEC_415
Known GenesNKAIN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752089
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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