A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2721737

Internal ID9956035
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237647315..237648094hg38UCSC Ensembl
Outerchr2:238555958..238556737hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793791, essv6968468, essv6679639, essv6875080, essv6739250, essv6872093, essv6922243, 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, essv6714705, essv6962340, 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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2721737
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0

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