A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724371



Internal ID10308007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44812842..44813803hg38UCSC Ensembl
Outerchr22:45208722..45209683hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38962
hg19962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756431, essv6937472, essv6674974, essv6824788, essv6666674, essv6915673, essv6902359, essv6801457, essv6950343, essv6747668, essv6972089, essv6874581, essv6905962, essv6925519, essv6913813, essv6946288, essv6842820, essv6733331, essv6773273, essv6668032, essv6717992, essv6839799, essv6694887, essv6898490, essv6941574, essv6928910, essv6696834, essv6729443, essv6901481, essv6776769, essv6725652, essv6933107, essv6784777, essv6832408, essv6954511, essv6699479, essv6714072, essv6843712, essv6703669, essv6744829, essv6682671, essv6769374, essv6895694, essv6815676, essv6917254, essv6783099, essv6877562, essv6961213, essv6835996, essv6761754, essv6788947, essv6780661, essv6686018, essv6892185, essv6804297, essv6888876, essv6742010, essv6921536, essv6816434, essv6858945
SamplesSSM100, SSM008, SSM083, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM042, SSM002, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM017, SSM019, SSM031, SSM067, SSM033, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM012
Known GenesARHGAP8, PRR5-ARHGAP8
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)esv2724371
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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