A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1185e199



Internal ID18983239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16309253..16362600hg38UCSC Ensembl
chr7:16348878..16402225hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3853348
hg1953348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670782, esv2663856
SamplesHG00607, HG00543, NA18635, NA18563, HG00560, NA18558, HG00448, NA18574
Known GenesISPD
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1185e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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