A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986584



Internal ID12635050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:177321697..177377697hg38UCSC Ensembl
Innerchr4:178242851..178298851hg19UCSC Ensembl
Innerchr4:178479845..178535845hg18UCSC Ensembl
Innerchr4:178618000..178674000hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3856001
hg1956001
hg1856001
hg1756001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34846
Supporting Variants
SamplesNA18997
Known GenesNEIL3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986584
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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