A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6797085



Internal ID9851607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11833399..11950274hg38UCSC Ensembl
Outerchr19:11944214..12061089hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38116876
hg19116876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718185
Supporting Variants
SamplesSSM071
Known GenesZNF439, ZNF440, ZNF69, ZNF700
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)essv6797085
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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