A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3603n106



Internal ID20162960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82326609..82326893hg38UCSC Ensembl
chr7:81955925..81956209hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135240, nsv1130557
SamplesKWS2
Known GenesCACNA2D1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3603n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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