A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722001



Internal ID10305637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241471954..241472141hg38UCSC Ensembl
Outerchr2:242411369..242411556hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906634, essv6711070
SamplesSSM042, SSM014
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)esv2722001
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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