A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749293



Internal ID9983577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105436857..105437519hg38UCSC Ensembl
Outerchr14:105903194..105903856hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724799, essv6940676, essv6901634, essv6717122, essv6920543, essv6949424, essv6959855, essv6966345, essv6772400, essv6932208, essv6924665, essv6695911, essv6796358, essv6828044, essv6912931, essv6857740, essv6681888, essv6977845, essv6702784, essv6728628, essv6851736, essv6800570, essv6894953, essv6783893, essv6788102, essv6721014, essv6713274, essv6945320, essv6831634, essv6775097, essv6936501, essv6792191, essv6971191, essv6779776
SamplesSSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM065, SSM087, SSM039, SSM042, SSM023, SSM028, SSM021, SSM018, SSM069, SSM029, SSM026, SSM017, SSM067, SSM044, SSM086, SSM033, SSM068, SSM081, SSM072, SSM020, SSM015, SSM080, SSM037, SSM022, SSM070, SSM043, SSM098, SSM012
Known GenesMTA1
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)esv2749293
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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