A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718493



Internal ID9952784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35350724..35363322hg38UCSC Ensembl
Outerchr19:35841627..35854224hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3812599
hg1912598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925366, essv6971944, essv6816328, essv6741902, essv6880232, essv6913689, essv6905846, essv6917128, essv6883066, essv6941442, essv6824667, essv6753310, essv6841831, essv6788829, essv6961015, essv6725512, essv6753308, essv6807157, essv6921366, essv6797129, essv6747575, essv6839666
SamplesSSM083, SSM071, SSM045, SSM079, SSM013, SSM093, SSM074, SSM057, SSM028, SSM018, SSM069, SSM026, SSM017, SSM094, SSM015, SSM016, SSM077, SSM022, SSM010, SSM055, SSM052
Known GenesFFAR1, FFAR3
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)esv2718493
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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