A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983288



Internal ID12975119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:142197413..142296748hg38UCSC Ensembl
Innerchr3:141916255..142015590hg19UCSC Ensembl
Innerchr3:143398945..143498280hg18UCSC Ensembl
Innerchr3:143398953..143498288hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3899336
hg1999336
hg1899336
hg1799336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751979
Supporting Variants
SamplesBEC_563
Known GenesGK5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983288
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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