A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718934



Internal ID9953226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54975245..54975732hg38UCSC Ensembl
Outerchr19:55486613..55487100hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682615, essv6807195, essv6764055, essv6801379, essv6835929, essv6668771, essv6863683, essv6793010, essv6797180, essv6666559, essv6946205, essv6961091, essv6674877, essv6717915, essv6758907, essv6692517, essv6888827, essv6786598, essv6824718, essv6971998, essv6717632, essv6937402, essv6917197
SamplesSSM059, SSM036, SSM071, SSM079, SSM074, SSM088, SSM023, SSM028, SSM021, SSM029, SSM096, SSM062, SSM026, SSM031, SSM001, SSM033, SSM006, SSM072, SSM082, SSM016, SSM070, SSM043, SSM030
Known GenesNLRP2
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)esv2718934
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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