A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718686



Internal ID9952978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48756427..48756794hg38UCSC Ensembl
Outerchr19:49259684..49260051hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961046, essv6792967, essv6685938, essv6946169, essv6913712
SamplesSSM034, SSM023, SSM015, SSM026, SSM070
Known GenesFGF21
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)esv2718686
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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