A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700162



Internal ID9769709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241115980..241116110hg38UCSC Ensembl
Outerchr2:242055395..242055525hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721983, esv2721980, esv2721982, esv2721978
Supporting Variants
SamplesSSM039
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)essv6700162
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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