A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675611



Internal ID9746000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173024217..173024501hg38UCSC Ensembl
Outerchr2:173888945..173889229hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721146
Supporting Variants
SamplesSSM032
Known GenesRAPGEF4
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)essv6675611
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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