A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv237e55



Internal ID20126716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105097165..105512795hg38UCSC Ensembl
chr7:104737612..105153242hg19UCSC Ensembl
chr7:104524848..104940478hg18UCSC Ensembl
chr7:104331563..104747193hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38415631
hg19415631
hg18415631
hg17415631
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34580, esv34588
SamplesNA12814, NA12802
Known GenesKMT2E, PUS7, SRPK2
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)dgv237e55
Frequency
Sample Size771
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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