A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740273



Internal ID9974615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:103337683..103338138hg38UCSC Ensembl
Outerchr10:105097440..105097895hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6771796, essv6845741, essv6919881, essv6712773, essv6948793, essv6743836, essv6795755, essv6691375, essv6677561, essv6681338, essv6831055, essv6716515, essv6698569, essv6834656, essv6803676, essv6931548, essv6806185, essv6779194, essv6787491, essv6912322, essv6842181, essv6709278, essv6856779, essv6695269, essv6736399, essv6906874, essv6752382, essv6866804, essv6970506, essv6709487, essv6791569, essv6935844, essv6815224, essv6809177, essv6936784, essv6758038, essv6760765, essv6728070, essv6672728, essv6749480, essv6862063, essv6769475, essv6944623, essv6870537, essv6684859, essv6976660, essv6900437, essv6737699
SamplesSSM065, SSM007, SSM053, SSM082, SSM006, SSM036, SSM033, SSM084, SSM061, SSM042, SSM043, SSM088, SSM089, SSM090, SSM031, SSM020, SSM071, SSM057, SSM032, SSM024, SSM067, SSM050, SSM041, SSM077, SSM100, SSM056, SSM085, SSM017, SSM009, SSM028, SSM029, SSM003, SSM069, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM046, SSM023, SSM074, SSM075, SSM015, SSM008, SSM059, SSM081, SSM070
Known GenesPCGF6
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)esv2740273
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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