A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715370



Internal ID10299006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:835728..836078hg38UCSC Ensembl
Outerchr17:738968..739318hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839280, essv6949753, essv6945669, essv6714687, essv6843112, essv6756018, essv6858169, essv6706772, essv6824261, essv6810988, essv6966822, essv6674196, essv6953932, essv6777555, essv6725124, essv6780076, essv6905498, essv6717435, essv6678466, essv6885491, essv6803941, essv6912307, essv6812670, essv6877145, essv6871464, essv6820399, essv6713564, essv6796696, essv6960346, essv6696229, essv6800918, essv6665716, essv6852186
SamplesSSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM079, SSM087, SSM013, SSM009, SSM073, SSM042, SSM002, SSM023, SSM058, SSM092, SSM084, SSM029, SSM026, SSM032, SSM031, SSM067, SSM086, SSM006, SSM040, SSM072, SSM078, SSM037, SSM076, SSM095, SSM025, SSM043
Known GenesNXN
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)esv2715370
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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