A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978277



Internal ID12981703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77942304..78023304hg38UCSC Ensembl
Innerchr14:78408647..78489647hg19UCSC Ensembl
Innerchr14:77478400..77559400hg18UCSC Ensembl
Innerchr14:77478400..77559400hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3881001
hg1981001
hg1881001
hg1781001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34345
Supporting Variants
SamplesNA18995
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978277
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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