A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984228



Internal ID12977901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48951210..49040010hg38UCSC Ensembl
Innerchr2:49178349..49267149hg19UCSC Ensembl
Innerchr2:49031853..49120653hg18UCSC Ensembl
Innerchr2:49090000..49178800hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3888801
hg1988801
hg1888801
hg1788801
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984228
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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