A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721983



Internal ID9956281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241115968..241116115hg38UCSC Ensembl
Outerchr2:242055383..242055530hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675690, essv6825528, essv6700162
SamplesSSM039, SSM032, SSM080
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)esv2721983
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer