A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640006



Internal ID7026784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13947807..13951471hg38UCSC Ensembl
Innerchr17:13947807..13951471hg38UCSC Ensembl
Outerchr17:13947563..13951757hg38UCSC Ensembl
chr17:13851124..13854788hg19UCSC Ensembl
Innerchr17:13851124..13854788hg19UCSC Ensembl
Outerchr17:13850880..13855074hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383665
hg193665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15617680, essv15617693, essv15617695, essv15617676, essv15617679, essv15617700, essv15617691, essv15617699, essv15617685, essv15617689, essv15617681, essv15617690, essv15617684, essv15617694, essv15617698, essv15617701, essv15617702, essv15617677, essv15617697, essv15617686, essv15617692, essv15617683, essv15617682, essv15617696, essv15617687, essv15617688, essv15617678
SamplesHG03857, HG03821, NA21099, NA20878, HG03616, HG03926, HG03772, NA21115, HG03950, HG03808, HG02655, HG02597, NA20869, HG04225, HG03990, HG02728, NA21118, NA21098, NA20876, NA21112, HG03953, HG03914, NA21113, HG03838, HG03729, HG03998, HG03615
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640006
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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