A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726410



Internal ID9960717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:192219587..192270877hg38UCSC Ensembl
Outerchr3:191937376..191988666hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851291
hg1951291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6739417, essv6929787, essv6844430, essv6880929, essv6813762, essv6667225, essv6770199, essv6864796, essv6973643, essv6854278, essv6745436, essv6817403, essv6699877, essv6829611, essv6711246, essv6718785, essv6918117, essv6842153
SamplesSSM065, SSM087, SSM042, SSM002, SSM029, SSM089, SSM017, SSM094, SSM044, SSM006, SSM085, SSM081, SSM020, SSM078, SSM077, SSM055, SSM052, SSM030
Known GenesFGF12
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)esv2726410
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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