A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749066



Internal ID10330036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708636..96709791hg38UCSC Ensembl
Outerchr14:97174973..97176128hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381156
hg191156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv270e201
Supporting Variantsessv6966310, essv6945300, essv6763569, essv6788086, essv6932188, essv6916395, essv6720997, essv6815726, essv6905199, essv6857707, essv6678136, essv6966309, essv6673684, essv6945299, essv6796335, essv6775991, essv6828027, essv6941551, essv6761183, essv6688527, essv6815725, essv6713260, essv6900856, essv6800555, essv6838908, essv6678135, essv6768740, essv6867547, essv6717107, essv6749903, essv6740564, essv6835170, essv6862765, essv6728615, essv6894934, essv6870958, essv6796336, essv6732442, essv6823949, essv6851713, essv6724782, essv6820079, essv6928188, essv6891542, essv6940659, essv6691873
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM079, SSM087, SSM097, SSM013, SSM042, SSM088, SSM023, SSM090, SSM047, SSM069, SSM061, SSM062, SSM089, SSM019, SSM035, SSM032, SSM003, SSM031, SSM044, SSM086, SSM066, SSM072, SSM082, SSM020, SSM007, SSM078, SSM016, SSM080, SSM077, SSM022, SSM043, SSM098, SSM056
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)esv2749066
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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