A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728071



Internal ID10311707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102463220..102464693hg38UCSC Ensembl
Outerchr4:103384377..103385850hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381474
hg191474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748401, essv6736625, essv6790067, essv6962948, essv6848401, essv6840824, essv6833382, essv6742776, essv6854538, essv6926437, essv6907025, essv6910896, essv6956243, essv6734060, essv6968881, essv6973950, essv6947379, essv6690036, essv6865049, essv6777740, essv6725231, essv6957085, essv6822765, essv6889784, essv6813936, essv6938547, essv6762359, essv6914717, essv6770369, essv6759678, essv6921484, essv6756353, essv6670384, essv6700966, essv6844570, essv6930010, essv6679998, essv6854598, essv6774226, essv6757089, essv6918298, essv6884187, essv6739566, essv6903323, essv6693719, essv6764723, essv6922642, essv6934223, essv6754163, essv6675299, essv6791554, essv6817630, essv6751241, essv6951454, essv6875356, essv6730454, essv6767181, essv6924207, essv6883882, essv6802242, essv6872392, essv6745581
SamplesSSM059, SSM036, SSM008, SSM027, SSM024, SSM064, SSM065, SSM087, SSM097, SSM013, SSM009, SSM073, SSM050, SSM002, SSM057, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM003, SSM031, SSM067, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM052, SSM049, SSM056, SSM063, SSM012
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)esv2728071
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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