A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718451



Internal ID10302087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:156836174..156837008hg38UCSC Ensembl
Outerchr1:156805966..156806800hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6722095, essv6951162, essv6902637, essv6843977, essv6877710, essv6789258, essv6669131, essv6801713, essv6689353, essv6921848, essv6910167, essv6917651, essv6844787, essv6954925, essv6749609, essv6853414, essv6933413, essv6836288, essv6925794, essv6847199, essv6777039, essv6714353, essv6968050, essv6773548, essv6825100, essv6840074, essv6725962, essv6941909, essv6710688, essv6946598, essv6793412, essv6679282, essv6950668, essv6692886, essv6972558, essv6785654, essv6675308, essv6780992, essv6699714, essv6829112, essv6766636, essv6697064, essv6877745, essv6917548, essv6914086, essv6961733, essv6937788, essv6874799
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM064, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM093, SSM042, SSM023, SSM028, SSM092, SSM084, SSM021, SSM018, SSM029, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM015, SSM016, SSM080, SSM037, SSM022, SSM070, SSM025, SSM004, SSM043, SSM012
Known GenesNTRK1
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)esv2718451
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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