A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749235



Internal ID10330205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104807649..104808378hg38UCSC Ensembl
Outerchr14:105273986..105274715hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv279e201
Supporting Variantsessv6905213, essv6712932, essv6740675, essv6945315, essv6857729, essv6920537, essv6673711, essv6744251, essv6876919, essv6709768, essv6901632, essv6728625, essv6909188, essv6900867, essv6868632, essv6867566, essv6959849, essv6857730, essv6698986, essv6806619, essv6732455, essv6755822, essv6709769, essv6873914, essv6867564, essv6959848, essv6779771, essv6891549, essv6695906, essv6894942, essv6688535, essv6940669, essv6868643, essv6842766, essv6688534, essv6941673, essv6717116, essv6932200, essv6885293, essv6912926, essv6966337, essv6724792, essv6851730, essv6941662, essv6772394
SamplesSSM100, SSM027, SSM045, SSM046, SSM011, SSM065, SSM087, SSM038, SSM097, SSM013, SSM074, SSM041, SSM023, SSM058, SSM092, SSM084, SSM047, SSM026, SSM089, SSM017, SSM035, SSM003, SSM031, SSM067, SSM014, SSM086, SSM006, SSM020, SSM007, SSM015, SSM053, SSM037, SSM022, SSM091, SSM095, SSM043, SSM098, 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)esv2749235
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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