A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717906



Internal ID10301542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:151846777..151847552hg38UCSC Ensembl
Outerchr1:151819253..151820028hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38776
hg19776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780986, essv6722091, essv6972546, essv6946590, essv6679275, essv6793407, essv6917541, essv6699706, essv6703941, essv6877654, essv6789253, essv6921842, essv6797561, essv6707346, essv6729728, essv6773545, essv6929171, essv6777029, essv6710683, essv6738908, essv6829104, essv6785100, essv6840068, essv6902631, essv6769629, essv6954914, essv6968043, essv6910160, essv6804494, essv6961724, essv6853407, essv6950660, essv6692882, essv6675306, essv6825095, essv6941901
SamplesSSM071, SSM027, SSM024, SSM045, SSM065, SSM087, SSM039, SSM013, SSM074, SSM042, SSM041, SSM023, SSM028, SSM084, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM032, SSM067, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM015, SSM080, SSM037, SSM070, SSM025, SSM052, SSM012
Known GenesTHEM5
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)esv2717906
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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