A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv123e55



Internal ID20126602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45393394..45589540hg38UCSC Ensembl
chr17:43470760..43666906hg19UCSC Ensembl
chr17:40826543..41022689hg18UCSC Ensembl
chr17:40826543..41022689hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38196147
hg19196147
hg18196147
hg17196147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34577, esv35084, esv34307, esv34266
SamplesNA12814, NA18969, NA18505, NA07034
Known GenesARHGAP27, LRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
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)dgv123e55
Frequency
Sample Size771
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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