A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3486n106



Internal ID20162843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6745069..6747869hg38UCSC Ensembl
chr7:6784700..6787500hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1137573, nsv1145125
SamplesKWS1, KWS2
Known GenesPMS2CL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3486n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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