A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984230



Internal ID12977904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48956270..49044278hg38UCSC Ensembl
Innerchr2:49183409..49271417hg19UCSC Ensembl
Innerchr2:49036913..49124921hg18UCSC Ensembl
Innerchr2:49095060..49183068hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3888009
hg1988009
hg1888009
hg1788009
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751895
Supporting Variants
SamplesBEC_814
Known GenesFSHR
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984230
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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