A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722385



Internal ID9956684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187137..37187533hg38UCSC Ensembl
Outerchr20:35815540..35815936hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38397
hg19397
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780382, essv6699339, essv6820732, essv6967273, essv6828605, essv6941319, essv6678745, essv6946013, essv6685817, essv6909712, essv6885676, essv6706934, essv6852648, essv6729194, essv6863460, essv6880129, essv6807049, essv6873620, essv6892002, essv6874329, essv6960812, essv6843397, essv6721589, essv6810054, essv6824540, essv6868254, essv6946396, essv6733051, essv6666246, essv6812862, essv6674617, essv6725407, essv6902128, essv6916979, essv6882967, essv6932850, essv6950047, essv6784537, essv6835748, essv6761582, essv6682434, essv6792823
SamplesSSM022, SSM027, SSM082, SSM086, SSM091, SSM033, SSM084, SSM061, SSM040, SSM078, SSM088, SSM089, SSM031, SSM020, SSM016, SSM032, SSM024, SSM045, SSM067, SSM094, SSM097, SSM012, SSM093, SSM011, SSM029, SSM003, SSM095, SSM047, SSM034, SSM038, SSM046, SSM023, SSM079, SSM068, SSM044, SSM074, SSM075, SSM026, SSM014, SSM076, SSM070, SSM080
Known GenesRPN2
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)esv2722385
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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