A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721634



Internal ID10305270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232899333..232900116hg38UCSC Ensembl
Outerchr2:233764043..233764826hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902967, essv6847778, essv6910530, essv6926090, essv6804781, essv6821639, essv6722445, essv6962322
SamplesSSM027, SSM045, SSM079, SSM013, SSM074, SSM019, SSM086, SSM015
Known GenesNGEF
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)esv2721634
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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