A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11625n54



Internal ID22779520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140175751..140178384hg38UCSC Ensembl
chr7:139875551..139878184hg19UCSC Ensembl
chr7:139522020..139524653hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg382634
hg192634
hg182634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608497, nsv608490
Samples
Known GenesJHDM1D-AS1, KDM7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11625n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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