A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6874697



Internal ID10010419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52124981..52161574hg38UCSC Ensembl
Outerchr19:52628234..52664827hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3836594
hg1936594
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718780
Supporting Variants
SamplesSSM011
Known GenesZNF616, ZNF836
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)essv6874697
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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