A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv229e55



Internal ID22761179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65263183..65778609hg38UCSC Ensembl
chr7:64728078..65243596hg19UCSC Ensembl
chr7:64365513..64881031hg18UCSC Ensembl
chr7:64172228..64687746hg17UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38515427
hg19515519
hg18515519
hg17515519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752172, esv2752173, esv2752170, esv2752171
SamplesBEC_304, BEC_740, BEC_654, BEC_287
Known GenesCCT6P1, INTS4L2, LOC441242, SNORA22, ZNF92
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)dgv229e55
Frequency
Sample Size771
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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