A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747393



Internal ID9981677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377114..49379733hg38UCSC Ensembl
Outerchr13:49951250..49953869hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382620
hg192620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783720, essv6792003, essv6909022, essv6758329, essv6873801, essv6842599, essv6796177, essv6681736, essv6945114, essv6900754, essv6720832, essv6779607, essv6712121, essv6885187, essv6755694, essv6773697, essv6970990, essv6870831, essv6806493, essv6673398, essv6728474, essv6698865, essv6752680, essv6768631, essv6713141, essv6677969, essv6809502, essv6688407, essv6706355, essv6749796, essv6831463, essv6949243, essv6763491, essv6761085
SamplesSSM059, SSM008, SSM071, SSM024, SSM075, SSM046, SSM064, SSM038, SSM074, SSM042, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM061, SSM062, SSM035, SSM032, SSM031, SSM067, SSM044, SSM014, SSM033, SSM006, SSM068, SSM081, SSM040, SSM091, SSM070, SSM095, SSM056, SSM012
Known GenesCAB39L
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)esv2747393
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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