A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730859



Internal ID10314495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143555704..143556120hg38UCSC Ensembl
Outerchr5:142935269..142935685hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739837, essv6907365, essv6778030, essv6708283, essv6719271, essv6748611, essv6764887, essv6818010, essv6872603, essv6922903, essv6702587, essv6786234, essv6893361, essv6814185, essv6762513, essv6969205, essv6886893, essv6926795, essv6865398, essv6793576, essv6723085, essv6774472, essv6848877, essv6854988, essv6683875, essv6875561, essv6947663, essv6854221, essv6677199, essv6751461, essv6833638, essv6963457, essv6959296, essv6878493, essv6805286, essv6903593, essv6974500, essv6726986, essv6759031, essv6943193, essv6745824, essv6841091, essv6911164, essv6680256, essv6802447, essv6881291
SamplesSSM008, SSM027, SSM024, SSM045, SSM046, SSM011, SSM087, SSM013, SSM009, SSM073, SSM093, SSM074, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM018, SSM069, SSM029, SSM096, SSM062, SSM089, SSM094, SSM003, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM006, SSM082, SSM015, SSM078, SSM005, SSM077, SSM091, SSM055, SSM034, SSM004, SSM052, SSM098, SSM056, SSM063
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)esv2730859
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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