A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718749



Internal ID10302385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50759018..50771331hg38UCSC Ensembl
Outerchr19:51262275..51274588hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3812314
hg1912314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883084, essv6741935, essv6839693, essv6828756
SamplesSSM083, SSM094, SSM080, SSM052
Known GenesGPR32
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)esv2718749
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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