A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720500



Internal ID10304136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108447707..108448409hg38UCSC Ensembl
Outerchr2:109064163..109064865hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6777286, essv6917799, essv6898885, essv6972994, essv6816994, essv6955355, essv6679531, essv6689601, essv6739130, essv6785384, essv6968344, essv6669541, essv6929466, essv6902864, essv6946842, essv6722335, essv6781253, essv6693171
SamplesSSM100, SSM036, SSM024, SSM045, SSM013, SSM028, SSM069, SSM029, SSM026, SSM017, SSM031, SSM067, SSM033, SSM068, SSM020, SSM078, SSM037, SSM052
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)esv2720500
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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