A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730199



Internal ID9964515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:56835140..56835619hg38UCSC Ensembl
Outerchr5:56130967..56131446hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969134, essv6693921, essv6798610, essv6918530, essv6911096, essv6922844, essv6848757, essv6723013, essv6844724, essv6943109, essv6781985, essv6947588, essv6938779, essv6790291, essv6726721, essv6822240, essv6854881, essv6777958, essv6903527, essv6886119, essv6875507, essv6704802, essv6841017, essv6774415, essv6829963, essv6951661
SamplesSSM022, SSM007, SSM092, SSM013, SSM086, SSM084, SSM040, SSM025, SSM072, SSM024, SSM045, SSM067, SSM012, SSM085, SSM017, SSM066, SSM028, SSM037, SSM087, SSM023, SSM079, SSM068, 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)esv2730199
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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