A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718801



Internal ID9953093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52813366..52816752hg38UCSC Ensembl
Outerchr19:53316619..53320005hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg383387
hg193387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888814, essv6782088, essv6747601, essv6812986, essv6721720, essv6917171, essv6810174, essv6692497, essv6839703, essv6769303, essv6843583, essv6950227, essv6814821, essv6928825
SamplesSSM036, SSM008, SSM083, SSM024, SSM075, SSM064, SSM009, SSM084, SSM096, SSM019, SSM044, SSM016, SSM076, SSM055
Known GenesZNF28
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)esv2718801
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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