A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716195



Internal ID9950483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:73373809..73374710hg38UCSC Ensembl
Outerchr17:71369948..71370849hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747332, essv6713639, essv6685668, essv6811710, essv6871258, essv6729011, essv6784333, essv6852324, essv6806904, essv6912918, essv6715310, essv6960486, essv6977062, essv6920976, essv6874190, essv6710083, essv6738388, essv6839352, essv6954023, essv6941116, essv6763830, essv6932656, essv6744500, essv6809925, essv6788516, essv6756085, essv6776387, essv6725210, essv6916810, essv6858297, essv6945771, essv6928539, essv6682252, essv6891859, essv6763819, essv6688863, essv6706866, essv6880001
SamplesSSM022, SSM053, SSM086, SSM006, SSM055, SSM091, SSM033, SSM042, SSM040, SSM090, SSM035, SSM025, SSM020, SSM016, SSM001, SSM045, SSM083, SSM050, SSM097, SSM041, SSM062, SSM093, SSM017, SSM009, SSM066, SSM069, SSM002, SSM034, SSM087, SSM046, SSM019, SSM023, SSM068, SSM074, SSM004, SSM075, SSM026, SSM058
Known GenesSDK2
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)esv2716195
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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