A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982521



Internal ID12627191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2329193..2580003hg38UCSC Ensembl
Innerchr3:2370877..2621687hg19UCSC Ensembl
Innerchr3:2345877..2596687hg18UCSC Ensembl
Innerchr3:2345877..2596687hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38250811
hg19250811
hg18250811
hg17250811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751996
Supporting Variants
SamplesBEC_462
Known GenesCNTN4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982521
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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