A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978401



Internal ID12635207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:114275143..115137143hg38UCSC Ensembl
Innerchr6:114596307..115458307hg19UCSC Ensembl
Innerchr6:114703000..115565000hg18UCSC Ensembl
Innerchr6:114703000..115565000hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38862001
hg19862001
hg18862001
hg17862001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34434
Supporting Variants
SamplesNA19092
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978401
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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