A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722117



Internal ID9956416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207634418..207750705hg38UCSC Ensembl
Outerchr1:207807763..207924050hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38116288
hg19116288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807507, essv6847273, essv6764284, essv6750733, essv6682962, essv6845266, essv6697107, essv6686286, essv6718305, essv6707396, essv6910206, essv6689400, essv6844016, essv6742275, essv6951629, essv6918041, essv6764285, essv6925835, essv6679329, essv6929226, essv6738967, essv6697108, essv6736104, essv6747914, essv6669208
SamplesSSM036, SSM075, SSM011, SSM038, SSM050, SSM041, SSM057, SSM019, SSM035, SSM003, SSM031, SSM044, SSM086, SSM033, SSM085, SSM020, SSM015, SSM053, SSM034, SSM004, SSM052, SSM056, SSM063
Known GenesCR1, CR1L
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)esv2722117
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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