A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747331



Internal ID10328301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44141849..44142508hg38UCSC Ensembl
Outerchr13:44715985..44716644hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38660
hg19660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831456, essv6755686, essv6741210, essv6970981, essv6959522, essv6888109, essv6783714, essv6724639, essv6924491, essv6787906, essv6738007, essv6838762, essv6752672, essv6894788, essv6885184, essv6842591, essv6920363, essv6744132, essv6695723, essv6806489, essv6681727, essv6800379, essv6746957, essv6953389, essv6936306, essv6966042, essv6803609, essv6791997, essv6713135, essv6905044
SamplesSSM083, SSM027, SSM045, SSM013, SSM073, SSM050, SSM074, SSM042, SSM057, SSM058, SSM028, SSM084, SSM021, SSM018, SSM069, SSM096, SSM026, SSM017, SSM033, SSM068, SSM081, SSM072, SSM053, SSM037, SSM055, SSM070, SSM095, SSM025, SSM052, SSM098
Known GenesSMIM2-AS1
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)esv2747331
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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