A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730856



Internal ID9965173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:143284518..143285280hg38UCSC Ensembl
Outerchr5:142664083..142664845hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808279, essv6969204, essv6963456, essv6759020, essv6903592, essv6930301, essv6956737, essv6667460, essv6793565, essv6730735, essv6854986, essv6704858, essv6934538, essv6680255, essv6926784, essv6841090, essv6899568, essv6770635, essv6748609, essv6974499, essv6918592, essv6739836, essv6694000, essv6875560
SamplesSSM065, SSM027, SSM092, SSM013, SSM033, SSM084, SSM040, SSM020, SSM100, SSM056, SSM017, SSM009, SSM028, SSM029, SSM003, SSM030, SSM047, SSM021, SSM037, SSM087, SSM052, SSM075, SSM026, SSM008
Known GenesNR3C1
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)esv2730856
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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