A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721097



Internal ID10304733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168039266..168039652hg38UCSC Ensembl
Outerchr2:168895776..168896162hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864469, essv6898939, essv6693237, essv6847683, essv6832972, essv6847610, essv6880724, essv6766840, essv6817074, essv6804731, essv6889368, essv6942272, essv6785444, essv6810630, essv6853869, essv6807702, essv6789604, essv6825431, essv6669649, essv6707633, essv6962221, essv6829373, essv6683180, essv6859682
SamplesSSM100, SSM027, SSM075, SSM011, SSM064, SSM087, SSM097, SSM074, SSM088, SSM041, SSM023, SSM069, SSM089, SSM094, SSM031, SSM086, SSM081, SSM082, SSM078, SSM080, SSM037, SSM076, SSM070, SSM034
Known GenesSTK39
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)esv2721097
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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