A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723349



Internal ID10306985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33239544..33240095hg38UCSC Ensembl
Outerchr21:34611849..34612400hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784870, essv6909958, essv6917325, essv6972180, essv6828904, essv6689183, essv6721888, essv6666796, essv6859060, essv6961346, essv6675083, essv6853084, essv6703747, essv6824866, essv6807305, essv6906030, essv6836064, essv6769428, essv6941668, essv6710503, essv6810281, essv6783765, essv6686080
SamplesSSM008, SSM075, SSM064, SSM079, SSM087, SSM039, SSM013, SSM074, SSM041, SSM028, SSM029, SSM026, SSM035, SSM031, SSM044, SSM014, SSM086, SSM068, SSM082, SSM016, SSM080, SSM022, SSM034
Known GenesIFNAR2
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)esv2723349
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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