A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723296



Internal ID3273792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:25902420..25902641hg38UCSC Ensembl
Outerchr21:27274732..27274953hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853077, essv6967769, essv6675073, essv6686074, essv6868628, essv6892223, essv6679048, essv6863829, essv6909953
SamplesSSM027, SSM086, SSM088, SSM089, SSM031, SSM032, SSM097, SSM034, SSM014
Known GenesAPP
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)esv2723296
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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