A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728542



Internal ID10312178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:152727881..152728830hg38UCSC Ensembl
Outerchr4:153649033..153649982hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869413, essv6942913, essv6938602, essv6756865, essv6854626, essv6934276, essv6918356, essv6781826, essv6829816, essv6680046, essv6974053, essv6715124, essv6837066, essv6963043, essv6693768, essv6968937, essv6957518, essv6848506, essv6956330, essv6930054, essv6947424, essv6922694
SamplesSSM008, SSM083, SSM027, SSM024, SSM087, SSM023, SSM028, SSM090, SSM021, SSM018, SSM029, SSM026, SSM017, SSM086, SSM033, SSM068, SSM081, SSM020, SSM037, SSM022, SSM004, SSM043
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)esv2728542
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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