A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728861



Internal ID10312497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:183336360..183337147hg38UCSC Ensembl
Outerchr4:184257513..184258300hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670556, essv6693803, essv6956391, essv6725909, essv6770440, essv6736691, essv6722910, essv6726785, essv6922734, essv6751322, essv6930093, essv6854678, essv6786034, essv6823388, essv6715167, essv6817758, essv6757159, essv6734117, essv6848552, essv6934306, essv6690120, essv6757287, essv6865165, essv6754238, essv6963099, essv6910966, essv6860381, essv6745661, essv6805155
SamplesSSM059, SSM036, SSM008, SSM027, SSM045, SSM046, SSM065, SSM087, SSM050, SSM074, SSM088, SSM057, SSM058, SSM021, SSM018, SSM069, SSM026, SSM089, SSM031, SSM086, SSM020, SSM007, SSM015, SSM078, SSM037, SSM010, SSM055, SSM043, SSM049
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2728861
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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