A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2072n106



Internal ID19020181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157576825..157577164hg38UCSC Ensembl
chr2:158433337..158433676hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1119006, nsv1111573, nsv1130413
SamplesKWS1, KWS2
Known GenesACVR1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2072n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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