A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718314



Internal ID9952605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20540010..20619351hg38UCSC Ensembl
Outerchr19:20722816..20802157hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3879342
hg1979342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824638, essv6781277, essv6898357, essv6745932, essv6913659, essv6781043, essv6921325, essv6947518, essv6820865
SamplesSSM008, SSM079, SSM017, SSM003, SSM001, SSM007, SSM015, SSM078, SSM099
Known GenesZNF737
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)esv2718314
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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