A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2727922

Internal ID9962234
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:85643191..85643549hg38UCSC Ensembl
Outerchr4:86564344..86564702hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869357, essv6802227, essv6822007, essv6938524, essv6725065, essv6962918, essv6676060, essv6774216, essv6718946, essv6886628, essv6813919, essv6825908, essv6794195, essv6903302, essv6851487, essv6686855, essv6968864, essv6785936, essv6906994, essv6790046, essv6973923, essv6693702, essv6956206, essv6899308, essv6881070, essv6922628, essv6700531, essv6883869, essv6781758, essv6690022, essv6711420, essv6810939, essv6833369, essv6884019, essv6704588, essv6670348, essv6844559, essv6957007, essv6929994, essv6865025, essv6697597, essv6683573, essv6926424, essv6808051, essv6837005, essv6805069, essv6848371, essv6854508, essv6896445, essv6860235, essv6893074, essv6722819, essv6878261, essv6767167, essv6730439, essv6947366, essv6708003
SamplesSSM022, SSM007, SSM027, SSM013, SSM082, SSM086, SSM036, SSM099, SSM042, SSM040, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM020, SSM071, SSM032, SSM039, SSM024, SSM045, SSM094, SSM083, SSM041, SSM077, SSM012, SSM093, SSM100, SSM085, SSM011, SSM066, SSM028, SSM029, SSM095, SSM047, SSM073, SSM069, SSM037, SSM034, SSM087, SSM038, SSM019, SSM096, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM098, SSM018, SSM076, SSM070, SSM080
Known GenesARHGAP24
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2727922
Sample Size96
Observed Gain0
Observed Loss57
Observed Complex0

Hosted by The Centre for Applied Genomics
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