A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744628



Internal ID9978912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:64855220..64856271hg38UCSC Ensembl
Outerchr11:64622692..64623743hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381052
hg191052
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
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)esv2744628
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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