A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2035n106



Internal ID22795863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130572627..130610027hg38UCSC Ensembl
chr2:131330200..131367600hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3837401
hg1937401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141365, nsv1128812
SamplesKWS2, KWS1
Known GenesCFC1, CFC1B, LOC646743, TISP43
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2035n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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