A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737040



Internal ID10320676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:54133690..54134384hg38UCSC Ensembl
Outerchr10:55893450..55894144hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863209, essv6737664, essv6684825, essv6746592, essv6935794, essv6870502, essv6944573, essv6743797, essv6827389, essv6882095, essv6970466, essv6948753, essv6728033, essv6795718, essv6749452, essv6900404, essv6815190, essv6691341, essv6819332, essv6919839, essv6698539, essv6702123, essv6908553, essv6856722, essv6775429, essv6890996, essv6701709, essv6834622, essv6740800, essv6832676, essv6952902, essv6958748, essv6734981, essv6705937, essv6906529, essv6862008, essv6677521, essv6760733, essv6755297, essv6936396, essv6845711, essv6976590, essv6779163, essv6763193, essv6791531, essv6806149, essv6709249, essv6879277, essv6758012, essv6803267, essv6720388, essv6873455, essv6915867, essv6752346, essv6787449, essv6811993, essv6724197, essv6940002, essv6735976, essv6927674, essv6924012, essv6887769, essv6831018, essv6681301, essv6894390, essv6896432, essv6809145, essv6672661, essv6799896
SamplesSSM100, SSM059, SSM036, SSM071, SSM024, SSM075, SSM045, SSM046, SSM011, SSM087, SSM038, SSM097, SSM039, SSM073, SSM093, SSM050, SSM074, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM090, SSM021, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM017, SSM019, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM033, SSM066, SSM085, SSM081, SSM040, SSM072, SSM082, SSM007, SSM078, SSM016, SSM053, SSM080, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM052, SSM098, SSM049, SSM056, SSM012
Known GenesPCDH15
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)esv2737040
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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