A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722002



Internal ID10305638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241482682..241483461hg38UCSC Ensembl
Outerchr2:242422097..242422876hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6968492, essv6789679, essv6722576, essv6910567, essv6821660, essv6906635, essv6938175, essv6942381, essv6700165
SamplesSSM079, SSM039, SSM023, SSM028, SSM014, SSM007, SSM015, SSM022, SSM070
Known GenesFARP2
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)esv2722002
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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