A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718938



Internal ID9953230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55032777..55033603hg38UCSC Ensembl
Outerchr19:55544145..55544971hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678927, essv6941497, essv6967565, essv6797181, essv6888828, essv6816371, essv6685957, essv6967563, essv6717916, essv6895624, essv6933034, essv6696762, essv6895625, essv6874886, essv6725574, essv6682616, essv6839728, essv6788881, essv6928854, essv6707084, essv6666560, essv6967564, essv6946206, essv6917198, essv6961092, essv6784711, essv6721752, essv6835933, essv6843623, essv6950259, essv6710384
SamplesSSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM041, SSM023, SSM084, SSM069, SSM029, SSM096, SSM026, SSM019, SSM032, SSM044, SSM033, SSM068, SSM040, SSM082, SSM020, SSM016, SSM037, SSM077, SSM022, SSM034, SSM043, SSM098
Known GenesGP6
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)esv2718938
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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