A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717645



Internal ID9951936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79444226..79444945hg38UCSC Ensembl
Outerchr18:77204226..77204945hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913494, essv6858521, essv6729144, essv6665422, essv6692319
SamplesSSM036, SSM087, SSM046, SSM004, SSM015
Known GenesNFATC1
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)esv2717645
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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