A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714413



Internal ID10298049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46384265..46397733hg38UCSC Ensembl
Outerchr16:46418177..46431645hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3813469
hg1913469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365e201
Supporting Variantsessv6688736, essv6953832, essv6895152, essv6815926, essv6692069, essv6839194, essv6721246, essv6949642, essv6725024, essv6732689, essv6913159, essv6895149, essv6971409, essv6732673, essv6779989, essv6831846, essv6940936, essv6713483, essv6852067, essv6796604, essv6916633, essv6735524, essv6820315, essv6888439, essv6924882, essv6960208, essv6879863, essv6839172, essv6758576, essv6685559, essv6871144, essv6713482, essv6909420, essv6971408, essv6885444, essv6960210, essv6784163, essv6735522, essv6863039, essv6831840, essv6940931, essv6824186, essv6742509, essv6928400, essv6877090, essv6882719, essv6728836, essv6870821, essv6812616, essv6905434, essv6932461, essv6674051, essv6920781, essv6828270, essv6800814, essv6858036, essv6835413, essv6696121, essv6758577, essv6741530, essv6792416, essv6728842, essv6888436, essv6788335, essv6709948, essv6682090, essv6717350, essv6945585, essv6796602, essv6843023, essv6839173, essv6776788, essv6895148, essv6852062, essv6761351, essv6867844, essv6928375, essv6753375, essv6971410, essv6703022, essv6678366, essv6674062, essv6763714, essv6800819, essv6932458, essv6913148, essv6747213, essv6824185, essv6820312, essv6911885, essv6721241, essv6685558, essv6703026, essv6776199, essv6975829, essv6717349, essv6810354, essv6776200
SamplesSSM059, SSM036, SSM008, SSM083, SSM071, SSM024, SSM045, SSM046, SSM011, SSM079, SSM087, SSM039, SSM013, SSM009, SSM093, SSM042, SSM088, SSM002, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM080, SSM037, SSM077, SSM076, SSM022, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM043, SSM052, SSM098, SSM049
Known Genes
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)esv2714413
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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