A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1971n106



Internal ID22795799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94845655..94849855hg38UCSC Ensembl
chr2:95511400..95515600hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg384201
hg194201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115570, nsv1132497
SamplesKWS2, KWS1
Known GenesANKRD20A8P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1971n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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