A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719069



Internal ID10302705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57240814..57242008hg38UCSC Ensembl
Outerchr19:57752182..57753376hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381195
hg191195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6874524, essv6917209, essv6895639, essv6871544, essv6782510, essv6946225, essv6699442, essv6843638, essv6692536, essv6793019, essv6832358, essv6967586, essv6933049, essv6780592, essv6885818, essv6666585, essv6913751, essv6746821
SamplesSSM036, SSM008, SSM027, SSM038, SSM023, SSM084, SSM090, SSM029, SSM067, SSM081, SSM020, SSM007, SSM015, SSM016, SSM091, SSM070, SSM095, SSM098
Known GenesZNF805
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)esv2719069
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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