A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721339



Internal ID10304975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:200816759..200816965hg38UCSC Ensembl
Outerchr1:200785887..200786093hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6902679, essv6929215, essv6878087, essv6675353, essv6937823, essv6921889, essv6781033, essv6946632, essv6961789, essv6769671
SamplesSSM027, SSM024, SSM065, SSM013, SSM018, SSM032, SSM068, SSM020, SSM022, SSM012
Known GenesCAMSAP2
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)esv2721339
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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