A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978604



Internal ID12978814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:113433240..113440240hg38UCSC Ensembl
Innerchr4:114354396..114361396hg19UCSC Ensembl
Innerchr4:114573845..114580845hg18UCSC Ensembl
Innerchr4:114712000..114719000hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg387001
hg197001
hg187001
hg177001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34797
Supporting Variants
SamplesNA12005
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978604
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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