A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787511



Internal ID9658817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:97201813..97203700hg38UCSC Ensembl
Outerchr2:97867550..97869437hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381888
hg191888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400, esv2720418, esv2720404
Supporting Variants
SamplesSSM009
Known GenesANKRD36
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)essv6787511
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