A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1243e199



Internal ID22759016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142312583..142345250hg38UCSC Ensembl
chr7:142012406..142045081hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3832668
hg1932676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2666894, esv2671900
SamplesNA18502, NA19700, NA20508, NA18596, HG01051, NA12155, NA18988, HG00271, NA18574, NA18582, HG00232, HG00309, NA18908, NA20755, NA18539, NA12748, HG00133, HG00653, NA20810, NA19982, NA19449, NA20542, NA19685, NA18533, NA19712, NA20797, HG00418, NA19779, NA18609, HG00252, NA07000, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1243e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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