A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34196



Internal ID12625077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4313871..8631320hg38UCSC Ensembl
Outerchr4:3910794..9776479hg38UCSC Ensembl
Innerchr4:4315598..8633046hg19UCSC Ensembl
Outerchr4:3912521..9778103hg19UCSC Ensembl
Innerchr4:4366499..8683946hg18UCSC Ensembl
Outerchr4:3963457..9387201hg18UCSC Ensembl
Innerchr4:4380140..8825747hg16UCSC Ensembl
Outerchr4:3860141..9528986hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385865686
hg195865583
hg185423745
hg165668846
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7571843, essv7571842
Samples
Known GenesABLIM2, ACOX3, AFAP1, AFAP1-AS1, BLOC1S4, C4orf6, CCDC96, CPZ, CRMP1, CYTL1, DEFB131, EVC, EVC2, FAM86EP, FLJ36777, GPR78, GRPEL1, HMX1, HTRA3, JAKMIP1, KIAA0232, LOC100129931, LOC285484, LOC650293, LOC93622, LYAR, MAN2B2, MIR378D1, MIR4274, MIR4798, MIR548I2, MRFAP1, MRFAP1L1, MSX1, NSG1, OTOP1, PPP2R2C, PSAPL1, S100P, SH3TC1, SORCS2, STK32B, STX18, STX18-AS1, TADA2B, TBC1D14, TMEM128, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P, WFS1, ZBTB49
MethodFISH
Analysis
PlatformGenome-SystemInc
Comments
ReferenceGiglio_et_al_2002
Pubmed ID12058347
Accession Number(s)esv34196
Frequency
Sample Size7
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer