A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749076



Internal ID10330046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96745510..96745960hg38UCSC Ensembl
Outerchr14:97211847..97212297hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792179, essv6862766, essv6959816, essv6945301, essv6815727, essv6809633, essv6870959, essv6803712, essv6838910, essv6831618, essv6891544, essv6924647, essv6673685, essv6800556, essv6732444, essv6828028, essv6747083, essv6885285, essv6949408, essv6796337, essv6897866, essv6806614, essv6685369, essv6842752, essv6823950, essv6724783, essv6713261, essv6728616, essv6882568, essv6709762, essv6812447, essv6691874, essv6788087, essv6698978, essv6678137, essv6695895, essv6835171, essv6867548, essv6953561, essv6879703
SamplesSSM036, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM079, SSM038, SSM097, SSM073, SSM093, SSM074, SSM042, SSM088, SSM041, SSM023, SSM084, SSM090, SSM047, SSM018, SSM069, SSM026, SSM089, SSM094, SSM032, SSM031, SSM081, SSM072, SSM082, SSM080, SSM037, SSM077, SSM076, SSM055, SSM070, SSM095, SSM025, SSM034, SSM099
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)esv2749076
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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