A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2719072

Internal ID9953364
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57496979..57511352hg38UCSC Ensembl
Outerchr19:58008347..58022720hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678938, essv6941513, essv6913753, essv6895641, essv6858867, essv6735859, essv6895640, essv6877508, essv6948329, essv6842353, essv6801398, essv6972014, essv6852891, essv6703616, essv6901442, essv6703615, essv6937415, essv6801397, essv6863705, essv6950276, essv6761716, essv6921466, essv6674901, essv6933050, essv6820962, essv6782521, essv6928865, essv6746843, essv6668778, essv6902313, essv6758916, essv6733264, essv6741966, essv6954444, essv6696774, essv6714010, essv6666586, essv6682624, essv6773204, essv6717928, essv6961120, essv6828793, essv6780593, essv6746832, essv6832359, essv6689105, essv6967587, essv6721766, essv6776726, essv6784723, essv6835948, essv6797201, essv6888838, essv6725588
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM082, SSM086, SSM033, SSM061, SSM042, SSM078, SSM043, SSM088, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM012, SSM100, SSM017, SSM066, SSM028, SSM029, SSM003, SSM030, SSM047, SSM021, SSM037, SSM087, SSM019, SSM096, SSM052, SSM068, SSM044, SSM015, SSM026, SSM049, SSM008, SSM098, SSM059, SSM081, SSM080
Known GenesZNF773
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2719072
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0

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