A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2816n106



Internal ID19020925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65498937..65499016hg38UCSC Ensembl
chr4:66364655..66364734hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1145626, nsv1136866
SamplesKWS1, KWS2
Known GenesEPHA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2816n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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