A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718185



Internal ID9952476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11828073..11950293hg38UCSC Ensembl
Outerchr19:11938888..12061108hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38122221
hg19122221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871458, essv6813987, essv6868374, essv6781110, essv6797085
SamplesSSM089, SSM090, SSM071, SSM009, SSM008
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)esv2718185
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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