A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3420159



Internal ID15267117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93150243..93150257hg38UCSC Ensembl
Innerchr8:93150234..93150266hg38UCSC Ensembl
Outerchr8:93150220..93150278hg38UCSC Ensembl
chr8:94162472..94162486hg19UCSC Ensembl
Innerchr8:94162463..94162495hg19UCSC Ensembl
Outerchr8:94162449..94162507hg19UCSC Ensembl
chr8:94231648..94231662hg18UCSC Ensembl
Innerchr8:94231671..94231639hg18UCSC Ensembl
Outerchr8:94231625..94231683hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8941149, essv8941100, essv8941116, essv8941131, essv8941089, essv8941132, essv8941107, essv8941110, essv8941098, essv8941093, essv8941128, essv8941143, essv8941135, essv8941144, essv8941121, essv8941136, essv8941127, essv8941106, essv8941090, essv8941129, essv8941094, essv8941119, essv8941091, essv8941145, essv8941117, essv8941088, essv8941138, essv8941113, essv8941134, essv8941146, essv8941123, essv8941109, essv8941147, essv8941122, essv8941125, essv8941095, essv8941104, essv8941130, essv8941140, essv8941141, essv8941150, essv8941099, essv8941102, essv8941105, essv8941120, essv8941133, essv8941108, essv8941118, essv8941096, essv8941097, essv8941139, essv8941101, essv8941142, essv8941124, essv8941112, essv8941111
SamplesNA11995, NA18592, NA18508, NA10851, NA18980, NA18561, NA18507, NA11920, NA12751, NA19190, NA18510, NA18550, NA18519, NA18489, NA18558, NA18960, NA18942, NA18916, NA18571, NA19138, NA12761, NA12044, NA12828, NA10847, NA18605, NA12489, NA18579, NA18572, NA18537, NA18566, NA19114, NA18499, NA18856, NA12249, NA18853, NA19257, NA18555, NA18523, NA18570, NA18593, NA18608, NA18542, NA12716, NA18909, NA11881, NA19108, NA18961, NA19147, NA18564, NA18501, NA19093, NA18609, NA19102, NA18505, NA19129, NA12776
Known GenesC8orf87
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3420159
Frequency
Sample Size185
Observed Gain56
Observed Loss0
Observed Complex0
Frequencyn/a


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