A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694887



Internal ID9993949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44813203..44813635hg38UCSC Ensembl
Outerchr22:45209083..45209515hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724371
Supporting Variants
SamplesSSM005
Known GenesARHGAP8, PRR5-ARHGAP8
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)essv6694887
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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