A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978287



Internal ID12635042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:177309672..177377671hg38UCSC Ensembl
Innerchr4:178230826..178298825hg19UCSC Ensembl
Innerchr4:178467820..178535819hg18UCSC Ensembl
Innerchr4:178605975..178673974hg17UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3868000
hg1968000
hg1868000
hg1768000
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)essv6978287
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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