A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749782



Internal ID9984066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:64371353..64372245hg38UCSC Ensembl
Outerchr15:64663552..64664444hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38893
hg19893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6752860, essv6665318, essv6966456, essv6738195, essv6747264, essv6882644, essv6696002, essv6820194, essv6809705, essv6713587, essv6709836, essv6744314, essv6788182, essv6800647, essv6809420, essv6974718, essv6758514, essv6876994, essv6772490, essv6749981, essv6766010, essv6761274, essv6837787, essv6862894, essv6735449
SamplesSSM059, SSM027, SSM075, SSM065, SSM009, SSM050, SSM088, SSM041, SSM057, SSM092, SSM069, SSM061, SSM029, SSM094, SSM001, SSM006, SSM072, SSM078, SSM053, SSM037, SSM010, SSM004, SSM049, SSM056, SSM063
Known GenesKIAA0101
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)esv2749782
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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