A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719070



Internal ID10302706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57241406..57241861hg38UCSC Ensembl
Outerchr19:57752774..57753229hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv547e201
Supporting Variantsessv6874524, essv6895639, essv6871544, essv6946225, essv6699442, essv6843638, essv6692536, essv6793019, essv6832358, essv6933049, essv6780592, essv6885818
SamplesSSM036, SSM038, SSM023, SSM084, SSM090, SSM067, SSM081, SSM020, 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)esv2719070
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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