A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719072



Internal ID9953364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57496979..57511352hg38UCSC Ensembl
Outerchr19:58008347..58022720hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3814374
hg1914374
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
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)esv2719072
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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