A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745125



Internal ID10326095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118875080..118876091hg38UCSC Ensembl
Outerchr11:118745789..118746800hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775638, essv6842368, essv6857103, essv6806325, essv6944864, essv6924265, essv6720623, essv6851068, essv6771265, essv6904855, essv6834410, essv6791788, essv6741013, essv6681515, essv6749625, essv6795967, essv6800142, essv6920083, essv6879434, essv6927867, essv6755492, essv6970735, essv6953156, essv6771988, essv6728266, essv6898655, essv6891222, essv6959158, essv6834826, essv6940266, essv6783508, essv6685023, essv6936050, essv6716820, essv6712925, essv6823568, essv6938473, essv6691535, essv6809317, essv6732062, essv6965679, essv6949022, essv6887960, essv6743974, essv6815412, essv6977042
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM075, SSM046, SSM079, SSM065, SSM087, SSM097, SSM013, SSM093, SSM074, SSM042, SSM023, SSM058, SSM028, SSM084, SSM021, SSM047, SSM018, SSM029, SSM096, SSM026, SSM017, SSM019, SSM003, SSM044, SSM001, SSM086, SSM033, SSM066, SSM068, SSM072, SSM082, SSM053, SSM077, SSM022, SSM010, SSM070, SSM025, SSM034, SSM052, SSM056, 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)esv2745125
Frequency
Sample Size96
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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