A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721978



Internal ID9956276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241115447..241116475hg38UCSC Ensembl
Outerchr2:242054862..242055890hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973303, essv6773906, essv6679659, essv6675690, essv6825528, essv6766897, essv6947003, essv6902994, essv6693334, essv6917948, essv6869708, essv6726330, essv6840462, essv6700162, essv6781412, essv6929622, essv6962368, essv6896190, essv6777431, essv6718624, essv6770038, essv6788733
SamplesSSM027, SSM024, SSM046, SSM064, SSM065, SSM039, SSM013, SSM009, SSM084, SSM029, SSM017, SSM032, SSM067, SSM044, SSM001, SSM033, SSM066, SSM068, SSM020, SSM080, SSM037, SSM099
Known GenesPASK
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)esv2721978
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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