A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730329



Internal ID10313965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:77752475..77752913hg38UCSC Ensembl
Outerchr5:77048299..77048737hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854902, essv6914903, essv6943124, essv6829972, essv6726922, essv6896601, essv6767346, essv6833596, essv6826163, essv6853598, essv6824299, essv6899515, essv6881240, essv6817926, essv6907289, essv6963359, essv6676722, essv6781994, essv6805240, essv6814132, essv6730678, essv6865327, essv6690237, essv6708216, essv6878444, essv6715313, essv6670790, essv6726798, essv6802397, essv6974387, essv6947603, essv6841027, essv6808226, essv6926274, essv6886834, essv6886264, essv6936929, essv6739781, essv6777973, essv6683815, essv6786179, essv6758487, essv6759848, essv6938790, essv6798625, essv6711642, essv6770585, essv6774426, essv6969145, essv6793132, essv6704812, essv6903540, essv6723026, essv6956643, essv6676334, essv6811125, essv6951670, essv6889998, essv6693937, essv6922851
SamplesSSM100, SSM036, SSM008, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM097, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM041, SSM023, SSM028, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM014, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM007, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM025, SSM034, SSM099, SSM043, SSM052, SSM012
Known GenesTBCA
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)esv2730329
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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