A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730321



Internal ID10313957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:76699051..76700044hg38UCSC Ensembl
Outerchr5:75994876..75995869hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38994
hg19994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918536, essv6907288, essv6943122, essv6829971, essv6903539, essv6739780, essv6817925, essv6774425, essv6848774, essv6711641, essv6687066, essv6956642, essv6844736, essv6833595, essv6676332, essv6974386, essv6734213, essv6963358, essv6670789, essv6715312, essv6875517, essv6837229, essv6754334, essv6841026, essv6860544, essv6826161, essv6805239, essv6822251, essv6872552, essv6767344, essv6745770, essv6878443
SamplesSSM083, SSM027, SSM064, SSM079, SSM013, SSM093, SSM074, SSM042, SSM088, SSM023, SSM058, SSM092, SSM084, SSM029, SSM026, SSM017, SSM035, SSM032, SSM031, SSM014, SSM086, SSM066, SSM085, SSM081, SSM082, SSM078, SSM080, SSM091, SSM055, SSM043, SSM052, SSM049
Known GenesIQGAP2
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)esv2730321
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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