A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980053



Internal ID12634501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189805629..189854489hg38UCSC Ensembl
Innerchr4:190726783..190775644hg19UCSC Ensembl
Innerchr4:190963777..191012638hg18UCSC Ensembl
Innerchr4:191101932..191150793hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg3848861
hg1948862
hg1848862
hg1748862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34388
Supporting Variants
SamplesNA18945
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980053
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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