A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718489



Internal ID9952780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35045309..35046268hg38UCSC Ensembl
Outerchr19:35536213..35537172hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38960
hg19960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946141, essv6905845, essv6781621, essv6666462, essv6696707, essv6717846, essv6784663, essv6788828, essv6721691, essv6782709, essv6747574, essv6769279, essv6954368, essv6776683, essv6713953, essv6947795, essv6839663, essv6898383, essv6932964, essv6733182, essv6682562, essv6863618, essv6692459, essv6707034, essv6921364, essv6792935, essv6937332, essv6801324
SamplesSSM036, SSM008, SSM083, SSM064, SSM013, SSM042, SSM088, SSM023, SSM021, SSM047, SSM069, SSM029, SSM017, SSM003, SSM044, SSM001, SSM033, SSM066, SSM068, SSM040, SSM072, SSM020, SSM037, SSM055, SSM070, SSM025, SSM099, SSM043
Known GenesHPN
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)esv2718489
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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