A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727417



Internal ID10311053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330635..37331804hg38UCSC Ensembl
Outerchr4:37332257..37333426hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381170
hg191170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6767113, essv6785841, essv6914631, essv6770296, essv6810882, essv6923407, essv6962809, essv6810881, essv6670220, essv6739488, essv6892996, essv6817498, essv6914629, essv6914628, essv6726597, essv6956318, essv6854415, essv6860130, essv6848251, essv6929905, essv6896390, essv6951375, essv6956090, essv6759622, essv6670219, essv6817500, essv6700461, essv6825804, essv6875292, essv6679912, essv6798288, essv6711342, essv6915707, essv6844503, essv6850664, essv6724532, essv6929907, essv6730367, essv6730366, essv6700421, essv6973798, essv6906898, essv6697545, essv6707928, essv6864914, essv6742710, essv6889677, essv6864915, essv6942716, essv6722749, essv6889675, essv6864913, essv6715005, essv6840727, essv6774149, essv6910821, essv6802180, essv6869288, essv6805019, essv6683481, essv6962810, essv6854414, essv6836908, essv6790966, essv6736564, essv6722750, essv6938459, essv6755565, essv6711344
SamplesSSM008, SSM083, SSM027, SSM045, SSM046, SSM011, SSM064, SSM065, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM050, SSM074, SSM042, SSM088, SSM041, SSM023, SSM092, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM026, SSM089, SSM003, SSM031, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM076, SSM022, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098
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)esv2727417
Frequency
Sample Size96
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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