A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730238



Internal ID10313874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60651917..60653434hg38UCSC Ensembl
Outerchr5:59947744..59949261hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6889985, essv6793077, essv6833586, essv6667425, essv6708208, essv6798616, essv6854888, essv6764848, essv6777962, essv6759840, essv6969138, essv6745761, essv6811115, essv6947591, essv6770578, essv6742950, essv6844728, essv6829967, essv6757234, essv6875511, essv6841021, essv6751412, essv6730673, essv6802393, essv6767338, essv6878435, essv6736795, essv6926207, essv6934470, essv6872545, essv6723017, essv6790294, essv6869521, essv6903531, essv6958829, essv6865317, essv6726911
SamplesSSM059, SSM024, SSM045, SSM046, SSM064, SSM065, SSM087, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM041, SSM057, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM061, SSM089, SSM003, SSM067, SSM085, SSM081, SSM072, SSM082, SSM053, SSM076, SSM091, SSM055, SSM070, SSM004, SSM030, SSM063
Known GenesDEPDC1B
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)esv2730238
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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