A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736368



Internal ID10320004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:2054700..2055429hg38UCSC Ensembl
Outerchr8:2002818..2003547hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6694808, essv6716108, essv6861537, essv6808848, essv6958013, essv6771399, essv6733254, essv6740473, essv6931085, essv6830707, essv6923616, essv6841796, essv6720028, essv6970027, essv6881839, essv6827001, essv6860120, essv6893031, essv6746338, essv6734752, essv6856106, essv6964654, essv6975850, essv6834307, essv6754995, essv6866281, essv6870230, essv6805875, essv6671995, essv6939628, essv6919463, essv6677125, essv6908195, essv6727682, essv6760474, essv6850078, essv6935337, essv6787029, essv6698295
SamplesSSM027, SSM075, SSM046, SSM011, SSM065, SSM087, SSM038, SSM074, SSM088, SSM058, SSM028, SSM084, SSM090, SSM021, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM081, SSM082, SSM020, SSM007, SSM080, SSM037, SSM022, SSM055, SSM043, SSM052, SSM049, SSM012
Known GenesMYOM2
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)esv2736368
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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