A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731181



Internal ID9965498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:176859115..176859453hg38UCSC Ensembl
Outerchr5:176286116..176286454hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38339
hg19339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6969235, essv6963514, essv6790380, essv6884114, essv6680278, essv6694026, essv6878511, essv6723109, essv6914973, essv6727013, essv6947680, essv6833656, essv6676426, essv6704879, essv6837303, essv6938868, essv6711715, essv6911188, essv6899584, essv6956790, essv6700923, essv6786262, essv6903613, essv6841119, essv6943231, essv6822335
SamplesSSM022, SSM027, SSM013, SSM082, SSM033, SSM084, SSM042, SSM040, SSM016, SSM032, SSM039, SSM024, SSM045, SSM083, SSM093, SSM100, SSM028, SSM095, SSM069, SSM037, SSM046, SSM023, SSM079, SSM015, SSM026, SSM070
Known GenesUNC5A
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)esv2731181
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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