A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2744628

Internal ID9978912
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855220..64856271hg38UCSC Ensembl
Outerchr11:64622692..64623743hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936006, essv6931716, essv6976949, essv6758146, essv6779345, essv6724394, essv6866995, essv6783458, essv6912481, essv6907873, essv6904804, essv6831201, essv6743937, essv6775601, essv6713376, essv6898276, essv6740962, essv6737818, essv6834782, essv6965607, essv6842324, essv6924217, essv6927832, essv6897575, essv6970296, essv6876560, essv6873582, essv6760881, essv6845869, essv6948966, essv6819560, essv6970672, essv6765705, essv6732016, essv6695434, essv6710399, essv6681469, essv6944806, essv6749591, essv6857025, essv6795916, essv6916024, essv6706107, essv6771952, essv6752484, essv6938063, essv6768412, essv6834020, essv6940209, essv6746751, essv6838519, essv6920032, essv6800094, essv6716679, essv6959089, essv6787650, essv6737488, essv6953102, essv6815362, essv6755450, essv6804743
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM006, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM040, SSM078, SSM043, SSM089, SSM064, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM024, SSM045, SSM067, SSM083, SSM050, SSM077, SSM012, SSM056, SSM085, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM047, SSM069, SSM021, SSM002, SSM037, SSM063, SSM087, SSM019, SSM023, SSM052, SSM068, SSM004, SSM015, SSM026, SSM018, SSM058, SSM059, SSM081
Known GenesEHD1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2744628
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0

Hosted by The Centre for Applied Genomics
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