A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723206



Internal ID10306842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220706106..220706667hg38UCSC Ensembl
Outerchr1:220879448..220880009hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937845, essv6941979, essv6847293, essv6777097, essv6773611
SamplesSSM023, SSM067, SSM086, SSM066, SSM022
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)esv2723206
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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