A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721577



Internal ID10305213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228619840..228620011hg38UCSC Ensembl
Outerchr2:229484556..229484727hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773874, essv6955549
SamplesSSM026, SSM066
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)esv2721577
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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