A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv22e55



Internal ID20126501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46412752..46606240hg38UCSC Ensembl
chr10:46943377..47136996hg19UCSC Ensembl
chr10:46363383..46557002hg18UCSC Ensembl
chr10:46363383..46557002hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38193489
hg19193620
hg18193620
hg17193620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750902, esv2750904, esv2750906, esv2750901, esv2750907, esv2750900, esv2750939, esv34440, esv34848, esv2750903, esv2750905
SamplesBEC_77, BEC_355, NA11882, BEC_722, NA12753, BEC_580, BEC_579, BEC_361, BEC_531, BEC_613, BEC_673
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv22e55
Frequency
Sample Size771
Observed Gain31
Observed Loss0
Observed Complex0
Frequencyn/a


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