A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667232



Internal ID9991540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52125032..52161634hg38UCSC Ensembl
Outerchr19:52628285..52664887hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3836603
hg1936603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718780
Supporting Variants
SamplesSSM004
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)essv6667232
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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