A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727422



Internal ID10311058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330852..37331495hg38UCSC Ensembl
Outerchr4:37332474..37333117hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv825e201
Supporting Variantsessv6767113, essv6785841, essv6770296, essv6810882, essv6923407, essv6962809, essv6810881, essv6670220, essv6739488, essv6817498, essv6726597, essv6956318, essv6854415, essv6860130, essv6929905, essv6951375, essv6759622, essv6670219, essv6817500, essv6825804, essv6875292, essv6798288, essv6711342, essv6850664, essv6724532, essv6730366, essv6973798, essv6906898, essv6697545, essv6864914, essv6742710, essv6889677, essv6864915, essv6942716, essv6722749, essv6889675, essv6864913, essv6715005, essv6840727, essv6774149, essv6910821, essv6802180, essv6869288, essv6805019, essv6854414, essv6790966, essv6736564, essv6722750, essv6711344
SamplesSSM027, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM023, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM089, SSM003, SSM031, SSM014, SSM066, SSM072, SSM020, SSM007, SSM015, SSM078, SSM053, SSM080, SSM076, SSM025, SSM004, SSM043, SSM052
Known GenesKIAA1239
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)esv2727422
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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