A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303390



Internal ID14803652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6635335..6635336hg38UCSC Ensembl
Innerchr17:6635318..6635353hg38UCSC Ensembl
Outerchr17:6635317..6635354hg38UCSC Ensembl
chr17:6538655..6538656hg19UCSC Ensembl
Innerchr17:6538638..6538673hg19UCSC Ensembl
Outerchr17:6538637..6538674hg19UCSC Ensembl
chr17:6479379..6479380hg18UCSC Ensembl
Innerchr17:6479397..6479362hg18UCSC Ensembl
Outerchr17:6479361..6479398hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7778600, essv7778986, essv7783671, essv7825250, essv7792914, essv7823946, essv7781808, essv7832959, essv7804353, essv7786426, essv7796888, essv7834684, essv7803882, essv7793463, essv7829475, essv7777025, essv7817259, essv7812901, essv7787108, essv7830260, essv7823497, essv7832484, essv7779673, essv7822639, essv7786043, essv7791562, essv7783236, essv7782060, essv7794837, essv7782777, essv7784386, essv7828788, essv7816036, essv7802112, essv7787605, essv7805538, essv7828205, essv7820937, essv7818808, essv7815255, essv7798244, essv7789727, essv7818584, essv7784638, essv7814448, essv7775849, essv7807118, essv7826929, essv7832067, essv7800049, essv7811068
SamplesNA18502, NA19141, NA18947, NA18592, NA18980, NA18561, NA18507, NA19190, NA18870, NA18526, NA18563, NA18944, NA18558, NA18942, NA18916, NA18582, NA19138, NA18949, NA18970, NA19238, NA18973, NA18638, NA19210, NA18956, NA18948, NA18907, NA18573, NA12249, NA18532, NA19099, NA18555, NA19225, NA18523, NA18570, NA18858, NA18593, NA18576, NA18953, NA11881, NA19108, NA18961, NA18952, NA19147, NA18517, NA12873, NA18609, NA19102, NA18552, NA18505, NA18511, NA18522
Known GenesKIAA0753
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303390
Frequency
Sample Size185
Observed Gain51
Observed Loss0
Observed Complex0
Frequencyn/a


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