A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730265



Internal ID10313901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63391597..63391909hg38UCSC Ensembl
Outerchr5:62687424..62687736hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6907278, essv6947594, essv6889991, essv6683806, essv6899509, essv6848766, essv6687058, essv6826152, essv6865323, essv6817915, essv6811118, essv6853531, essv6963347, essv6956633, essv6854892, essv6974370, essv6719201, essv6715309, essv6886828, essv6700801, essv6884022, essv6726913, essv6893285, essv6860536, essv6837222, essv6676324, essv6708211, essv6670777, essv6881236
SamplesSSM100, SSM083, SSM027, SSM024, SSM046, SSM011, SSM087, SSM097, SSM039, SSM088, SSM041, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM078, SSM080, SSM076, SSM095, SSM034, SSM043, SSM098
Known Genes
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)esv2730265
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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