A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748450



Internal ID10329420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21182642..21183810hg38UCSC Ensembl
Outerchr14:21650801..21651969hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381169
hg191169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870899, essv6807976, essv6732375, essv6783822, essv6932124, essv6882507, essv6740176, essv6905128, essv6876856, essv6763529, essv6953500, essv6728567, essv6857601, essv6888194, essv6712554, essv6678061, essv6867474, essv6851604, essv6749856, essv6774431, essv6977688, essv6836521, essv6820001, essv6912851, essv6752745, essv6862680, essv6945234, essv6901499, essv6910185, essv6688788, essv6792109, essv6835108, essv6717053, essv6744194, essv6838863, essv6936417, essv6809571, essv6800481
SamplesSSM008, SSM083, SSM075, SSM046, SSM087, SSM013, SSM009, SSM088, SSM002, SSM057, SSM023, SSM092, SSM090, SSM021, SSM047, SSM029, SSM096, SSM062, SSM089, SSM094, SSM032, SSM086, SSM006, SSM068, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM053, SSM005, SSM010, SSM070, SSM025, SSM043, 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)esv2748450
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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