A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846694



Internal ID9898821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9578713..9669012hg38UCSC Ensembl
Outerchr19:9689389..9779688hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3890300
hg1990300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718156
Supporting Variants
SamplesSSM085
Known GenesC19orf82, ZNF121, ZNF561, ZNF562
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)essv6846694
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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