A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716440



Internal ID10300076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113497152..113503290hg38UCSC Ensembl
Outerchr1:114039774..114045912hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386139
hg196139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793386, essv6914069, essv6859293, essv6759127, essv6718237, essv6968021, essv6756620, essv6725939, essv6749387, essv6868781, essv6773527, essv6769611, essv6797542, essv6785084, essv6753578, essv6937756, essv6817442, essv6929155, essv6972513, essv6871782, essv6864067, essv6810409, essv6669096, essv6840052, essv6941876, essv6696331, essv6902615, essv6806820, essv6714327, essv6886051, essv6745015, essv6943483, essv6761903, essv6699688, essv6832674, essv6853368, essv6666951, essv6733552, essv6895913, essv6747860, essv6692866, essv6813237, essv6742214, essv6689331, essv6925771, essv6707332, essv6946574, essv6804473, essv6669899, essv6950906, essv6764230
SamplesSSM059, SSM036, SSM008, SSM071, SSM024, SSM046, SSM065, SSM087, SSM039, SSM013, SSM074, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM084, SSM090, SSM069, SSM061, SSM029, SSM096, SSM062, SSM089, SSM019, SSM031, SSM044, SSM001, SSM066, SSM006, SSM072, SSM082, SSM020, SSM016, SSM053, SSM005, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM004, SSM099, SSM043, SSM049, SSM056, SSM030, SSM063
Known GenesMAGI3
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)esv2716440
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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