A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749599



Internal ID10330569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40123994..40155312hg38UCSC Ensembl
Outerchr15:40416195..40447513hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3831319
hg1931319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738185, essv6688596, essv6916492, essv6879764, essv6681940, essv6665280, essv6717194, essv6695972, essv6867663, essv6928266, essv6867664, essv6717193, essv6788167, essv6901699, essv6765996, essv6876980, essv6796424, essv6775742, essv6862872, essv6940748, essv6706557, essv6862873, essv6835243, essv6735439, essv6691937, essv6673807, essv6842846, essv6678214, essv6839016, essv6688597, essv6738184, essv6909257, essv6749962, essv6728686, essv6911206, essv6806677, essv6966427, essv6783971, essv6837676
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM046, SSM093, SSM050, SSM074, SSM088, SSM002, SSM092, SSM084, SSM069, SSM029, SSM089, SSM019, SSM035, SSM032, SSM031, SSM014, SSM033, SSM068, SSM040, SSM082, SSM016, SSM037, SSM022, SSM010, SSM043, SSM049, SSM056, SSM063, SSM012
Known Genes
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)esv2749599
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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