A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721785



Internal ID10305421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238776518..238776866hg38UCSC Ensembl
Outerchr2:239685159..239685507hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840447, essv6968472, essv6781392, essv6973266, essv6946989, essv6730069, essv6793795, essv6777409, essv6955588, essv6951052, essv6693313, essv6920973, essv6910543, essv6847794, essv6914384, essv6773891, essv6962344
SamplesSSM071, SSM027, SSM024, SSM028, SSM084, SSM047, SSM029, SSM026, SSM003, SSM067, SSM086, SSM066, SSM068, SSM015, SSM016, SSM037, SSM025
Known Genes
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)esv2721785
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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