A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33998



Internal ID5938289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42505178..43203179hg38UCSC Ensembl
Outerchr17:42405178..43377828hg38UCSC Ensembl
Innerchr17:40657196..41355196hg19UCSC Ensembl
Outerchr17:40557196..41455196hg19UCSC Ensembl
Innerchr17:37910722..38710722hg18UCSC Ensembl
Outerchr17:37810722..38810722hg18UCSC Ensembl
Innerchr17:41030361..41830361hg16UCSC Ensembl
Outerchr17:40930361..41930361hg16UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38972651
hg19898001
hg181000001
hg161000001
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7033422
SamplesRP11_BAC_Clones
Known GenesAARSD1, AOC2, AOC3, AOC4P, ATP6V0A1, BECN1, BRCA1, CCR10, CNTD1, CNTNAP1, COA3, COASY, EZH1, FAM134C, G6PC, HSD17B1, IFI35, LINC00671, LINC00854, LINC00910, MIR5010, MIR6780A, MIR6781, MLX, NAGLU, NBR1, NBR2, PLEKHH3, PSMC3IP, PSME3, PTGES3L, PTGES3L-AARSD1, PTRF, RAMP2, RAMP2-AS1, RND2, RPL27, RUNDC1, TMEM106A, TUBG1, TUBG2, VAT1, VPS25, WNK4
MethodMicrosatellite genotyping
Analysis
PlatformPTC-225 (MJ Research)
Comments
ReferenceStefansson_et_al_2005
Pubmed ID15654335
Accession Number(s)esv33998
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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