A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728155



Internal ID10311791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113063645..113065522hg38UCSC Ensembl
Outerchr4:113984801..113986678hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg381878
hg191878
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922261, essv6924307, essv6718984, essv6947386, essv6926444, essv6781781, essv6893100, essv6942859, essv6837035, essv6896464, essv6759687, essv6742788, essv6968894, essv6808075, essv6817651, essv6667318, essv6884298, essv6956260, essv6907046, essv6670406, essv6957163, essv6886661, essv6802251, essv6725321, essv6833392, essv6956261, essv6708032, essv6730466, essv6791665, essv6764735, essv6770377, essv6734069, essv6844581, essv6872401, essv6715091, essv6883895, essv6676095, essv6785962, essv6790079, essv6899342, essv6683608, essv6973969, essv6711449, essv6751250, essv6851842, essv6693727, essv6697617, essv6722841, essv6704624, essv6810963, essv6848422, essv6700573, essv6767189, essv6798403, essv6756476, essv6930016, essv6805094, essv6878294, essv6865066, essv6822865, essv6690050, essv6881103, essv6869383, essv6938559, essv6956264, essv6739576, essv6745590, essv6962970, essv6860279, essv6840833, essv6675388, essv6922650, essv6914727, essv6757101, essv6726718, essv6889798, essv6813945, essv6822036, essv6854559, essv6736633
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM041, SSM057, SSM023, SSM028, SSM084, SSM090, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM026, SSM089, SSM019, SSM094, SSM032, SSM003, SSM031, SSM044, SSM001, SSM014, SSM086, SSM085, SSM068, SSM040, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM030, SSM063, SSM012
Known GenesANK2
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)esv2728155
Frequency
Sample Size96
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


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