A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2032n106



Internal ID20161389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130023832..131398849hg38UCSC Ensembl
chr2:130781405..132156422hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381375018
hg191375018
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141889, nsv1129332
SamplesKWS1, KWS2
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LOC440910, LOC646743, MED15P9, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, SMPD4, TISP43, TUBA3E, WTH3DI
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2032n106
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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