A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718494



Internal ID10302130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35511115..35511945hg38UCSC Ensembl
Outerchr19:36002017..36002847hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38831
hg19831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950195, essv6696711, essv6729330, essv6932966, essv6682563, essv6780508, essv6961016, essv6901400, essv6666464, essv6668731, essv6707035, essv6810144, essv6814476, essv6852811, essv6846735, essv6971945, essv6703556, essv6713955, essv6797130, essv6941443, essv6788830, essv6710342, essv6769280, essv6784666, essv6725513, essv6733183, essv6913690, essv6947806, essv6717848, essv6937333, essv6925367, essv6666877, essv6824668
SamplesSSM100, SSM071, SSM024, SSM075, SSM045, SSM046, SSM064, SSM079, SSM039, SSM009, SSM042, SSM041, SSM028, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM003, SSM067, SSM086, SSM033, SSM085, SSM068, SSM040, SSM020, SSM015, SSM037, SSM022, SSM004, SSM043, SSM030
Known GenesDMKN
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)esv2718494
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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