A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718581



Internal ID10302217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41894313..41895441hg38UCSC Ensembl
Outerchr19:42398386..42399514hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666487, essv6678884, essv6747583, essv6756351, essv6902261, essv6888803, essv6783598, essv6874460, essv6750404, essv6753318, essv6954383, essv6682575, essv6703567, essv6820911, essv6863629, essv6843557, essv6741915, essv6967508, essv6788842
SamplesSSM027, SSM039, SSM088, SSM057, SSM058, SSM084, SSM069, SSM029, SSM096, SSM032, SSM001, SSM033, SSM078, SSM091, SSM055, SSM025, SSM052, SSM056, SSM012
Known GenesARHGEF1
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)esv2718581
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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