A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721199



Internal ID10304835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179557096..179557936hg38UCSC Ensembl
Outerchr2:180421823..180422663hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910488, essv6864483, essv6781340, essv6773844, essv6730025, essv6742470, essv6946923, essv6736313, essv6929538, essv6689662, essv6752409, essv6933765, essv6764451, essv6722055, essv6914347, essv6922191, essv6748110, essv6777350, essv6788143, essv6953684, essv6750923, essv6938111, essv6739195, essv6710996, essv6973144, essv6968412, essv6759371, essv6733769, essv6853887, essv6824153, essv6693252, essv6704220, essv6829391, essv6872044, essv6880398, essv6679593, essv6844238, essv6840390, essv6753840, essv6766848, essv6832985, essv6804745, essv6745254, essv6917878, essv6672365, essv6819787, essv6926054, essv6906550, essv6785457, essv6813531, essv6756837, essv6950987, essv6902926, essv6714660, essv6962243, essv6817095, essv6955477, essv6769950
SamplesSSM059, SSM036, SSM008, SSM027, SSM024, SSM064, SSM065, SSM087, SSM013, SSM009, SSM050, SSM074, SSM042, SSM057, SSM058, SSM028, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM067, SSM001, SSM014, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesZNF385B
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)esv2721199
Frequency
Sample Size96
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


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