A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983094



Internal ID12974815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53131067..53248200hg38UCSC Ensembl
Innerchr2:53358205..53475338hg19UCSC Ensembl
Innerchr2:53211709..53328842hg18UCSC Ensembl
Innerchr2:53269856..53386989hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38117134
hg19117134
hg18117134
hg17117134
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751897
Supporting Variants
SamplesBEC_542
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983094
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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