A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718961



Internal ID10302597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55361171..55362289hg38UCSC Ensembl
Outerchr19:55872539..55873657hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381119
hg191119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915174, essv6967567, essv6905897, essv6766398, essv6776717, essv6689101, essv6961097, essv6863687, essv6828783, essv6858848, essv6820949, essv6666564, essv6868488, essv6674881
SamplesSSM027, SSM087, SSM013, SSM088, SSM002, SSM029, SSM026, SSM089, SSM035, SSM031, SSM066, SSM078, SSM080, SSM063
Known GenesFAM71E2
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)esv2718961
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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