A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6955195



Internal ID9643073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129388405..129494425hg38UCSC Ensembl
Outerchr3:129107248..129213268hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38106021
hg19106021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725901
Supporting Variants
SamplesSSM004
Known GenesEFCAB12, IFT122, MBD4, RPL32P3, SNORA7B
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)essv6955195
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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