A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721688



Internal ID10305324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:235525912..235526210hg38UCSC Ensembl
Outerchr2:236434556..236434854hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962329, essv6938148, essv6793785
SamplesSSM071, SSM027, SSM022
Known GenesAGAP1
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)esv2721688
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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