A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718907



Internal ID9953199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54692974..54693338hg38UCSC Ensembl
Outerchr19:55204739..55205103hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38365
hg19365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721737, essv6674867, essv6937388, essv6858837, essv6792997, essv6710379, essv6788878, essv6699434, essv6824717, essv6666549, essv6678908, essv6868474, essv6852869, essv6961082, essv6909836, essv6747613, essv6905891, essv6828775, essv6689098
SamplesSSM079, SSM087, SSM038, SSM013, SSM041, SSM021, SSM069, SSM029, SSM026, SSM089, SSM035, SSM032, SSM031, SSM044, SSM014, SSM086, SSM080, SSM055, SSM070
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)esv2718907
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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