A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720080



Internal ID9954376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54338329..54340369hg38UCSC Ensembl
Outerchr2:54565466..54567506hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg382041
hg192041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952818, essv6929417, essv6914242, essv6910381, essv6697732, essv6950871, essv6859543, essv6871959, essv6896061, essv6804653, essv6844141, essv6933646, essv6972907, essv6898853, essv6667063, essv6773743, essv6707548, essv6968294, essv6840285, essv6751364, essv6955282, essv6819054, essv6892602, essv6877880, essv6874954, essv6946804, essv6718471, essv6829286, essv6880639, essv6769850, essv6962046, essv6704128, essv6739092, essv6745167, essv6938001, essv6813439, essv6675508, essv6758597, essv6742386, essv6721110, essv6736218, essv6710887, essv6756759, essv6820042, essv6801851, essv6864336, essv6764372, essv6922064, essv6810558, essv6847509, essv6697205, essv6679485, essv6846521, essv6821486, essv6853701, essv6879509, essv6726152, essv6781217, essv6889270, essv6902823, essv6714561, essv6906409, essv6787142
SamplesSSM100, SSM059, SSM008, SSM027, SSM024, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM028, SSM092, SSM084, SSM021, SSM018, SSM029, SSM026, SSM089, SSM094, SSM032, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM020, SSM007, SSM015, SSM016, SSM053, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM030, SSM063, SSM012
Known GenesC2orf73
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)esv2720080
Frequency
Sample Size96
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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