A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721980



Internal ID10305616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241115780..241116299hg38UCSC Ensembl
Outerchr2:242055195..242055714hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv644e201
Supporting Variantsessv6773906, essv6679659, essv6675690, essv6825528, essv6766897, essv6947003, essv6902994, essv6726330, essv6700162, essv6781412, essv6929622, essv6962368, essv6896190, essv6777431, essv6718624, essv6770038
SamplesSSM027, SSM024, SSM046, SSM064, SSM065, SSM039, SSM013, SSM032, SSM067, SSM044, SSM033, SSM066, SSM068, SSM020, SSM080, 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)esv2721980
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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