A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905962



Internal ID10016513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44813210..44813997hg38UCSC Ensembl
Outerchr22:45209090..45209877hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38788
hg19788
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724371
Supporting Variants
SamplesSSM013
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)essv6905962
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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