A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718303



Internal ID9952594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20065820..20066211hg38UCSC Ensembl
Outerchr19:20176629..20177020hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885759, essv6780821, essv6932938, essv6839643, essv6764002, essv6812938, essv6960979, essv6788803, essv6835858, essv6937308, essv6703529, essv6666419, essv6905817, essv6902222, essv6883055, essv6750368, essv6696688, essv6901370, essv6841487, essv6780482, essv6814155
SamplesSSM100, SSM083, SSM039, SSM013, SSM009, SSM021, SSM069, SSM029, SSM062, SSM026, SSM094, SSM067, SSM001, SSM082, SSM020, SSM037, SSM076, SSM010, SSM095, SSM056, SSM012
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)esv2718303
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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