A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728370



Internal ID10312006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134668407..134669110hg38UCSC Ensembl
Outerchr4:135589562..135590265hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794258, essv6930034, essv6825979, essv6922669, essv6934253, essv6739601, essv6833414, essv6670461, essv6907078, essv6805105, essv6686902, essv6802273, essv6693746, essv6942883, essv6711469, essv6968919, essv6886683, essv6924529, essv6781801, essv6756665, essv6951483, essv6730491, essv6860318, essv6715107, essv6974020, essv6725443, essv6918327, essv6963014, essv6840850, essv6829799, essv6700594, essv6774251, essv6770396, essv6790103, essv6813967, essv6889827, essv6686903, essv6683629, essv6907077, essv6903357, essv6872422, essv6667327, essv6726744, essv6708058
SamplesSSM008, SSM071, SSM027, SSM046, SSM065, SSM097, SSM039, SSM013, SSM073, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM029, SSM096, SSM017, SSM035, SSM003, SSM031, SSM014, SSM066, SSM068, SSM081, SSM082, SSM020, SSM007, SSM080, SSM037, SSM077, SSM091, SSM070, SSM025, SSM034, SSM043, SSM052, SSM030
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)esv2728370
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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