A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715923



Internal ID10299559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41233552..41239232hg38UCSC Ensembl
Outerchr17:39389804..39395484hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385681
hg195681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803981, essv6778066, essv6699189, essv6839542, essv6778077, essv6743499, essv6668552, essv6741626, essv6706829, essv6820463, essv6674270, essv6916778, essv6761486, essv6912674, essv6901935, essv6750123, essv6874162, essv6717503, essv6665826, essv6735604, essv6820462, essv6816032, essv6835537, essv6725173, essv6747304, essv6960433, essv6766151, essv6867996, essv6763810, essv6758668, essv6858252, essv6665825, essv6960434, essv6905554, essv6852278, essv6949807
SamplesSSM059, SSM008, SSM024, SSM045, SSM087, SSM038, SSM013, SSM073, SSM002, SSM029, SSM062, SSM026, SSM089, SSM031, SSM001, SSM086, SSM040, SSM082, SSM007, SSM078, SSM016, SSM077, SSM010, SSM091, SSM055, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesKRTAP9-8
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)esv2715923
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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