A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988246



Internal ID12980770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:60997608..61066970hg38UCSC Ensembl
Innerchr3:60983280..61052642hg19UCSC Ensembl
Innerchr3:60958320..61027682hg18UCSC Ensembl
Innerchr3:60958320..61027682hg17UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3869363
hg1969363
hg1869363
hg1769363
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34680
Supporting Variants
SamplesNA18632
Known GenesFHIT
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988246
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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