A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721737



Internal ID9956035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237647315..237648094hg38UCSC Ensembl
Outerchr2:238555958..238556737hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793791, essv6968468, essv6875080, essv6679639, essv6739250, essv6922243, essv6872093, essv6820131, essv6946986, essv6777406, essv6954051, essv6955578, essv6804790, essv6785523, essv6770013, essv6773889, essv6847790, essv6813572, essv6840445, essv6929594, essv6880920, essv6711051, essv6683245, essv6801971, essv6718608, essv6693312, essv6797970, essv6675675, essv6917932, essv6896175, essv6844276, essv6942357, essv6752897, essv6700145, essv6938157, essv6951046, essv6689700, essv6781390, essv6707685, essv6829444, essv6726312, essv6833026, essv6883603, essv6704261, essv6933813, essv6672732, essv6730068, essv6788600, essv6962340, essv6714705, essv6697337, essv6766882, essv6902980, essv6920951, essv6853973, essv6821647, essv6789659
SamplesSSM010, SSM065, SSM022, SSM027, SSM092, SSM013, SSM082, SSM086, SSM036, SSM091, SSM033, SSM084, SSM099, SSM042, SSM040, SSM043, SSM064, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM067, SSM041, SSM077, SSM005, SSM012, SSM085, SSM017, SSM009, SSM066, SSM028, SSM003, SSM095, SSM047, SSM073, SSM069, SSM021, SSM037, SSM034, SSM087, SSM038, SSM046, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM026, SSM008, SSM018, SSM081, SSM070
Known GenesLRRFIP1
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)esv2721737
Frequency
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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