A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730198



Internal ID9964514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56834935..56836024hg38UCSC Ensembl
Outerchr5:56130762..56131851hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381090
hg191090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969134, essv6693921, essv6730670, essv6798610, essv6974358, essv6918530, essv6911096, essv6922844, essv6848757, essv6723013, essv6844724, essv6943109, essv6770574, essv6958795, essv6781985, essv6947588, essv6938779, essv6790291, essv6767335, essv6676622, essv6726721, essv6822240, essv6824232, essv6854881, essv6777958, essv6903527, essv6926605, essv6886119, essv6875507, essv6667420, essv6934466, essv6704802, essv6745757, essv6841017, essv6774415, essv6829963, essv6951661
SamplesSSM010, SSM065, SSM022, SSM007, SSM092, SSM013, SSM086, SSM055, SSM084, SSM040, SSM064, SSM025, SSM072, SSM024, SSM045, SSM067, SSM005, SSM012, SSM085, SSM017, SSM066, SSM028, SSM029, SSM030, SSM047, SSM021, SSM037, SSM087, SSM019, SSM023, SSM079, SSM068, SSM004, SSM015, SSM018, SSM081, SSM070
Known GenesMAP3K1
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)esv2730198
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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