A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751442



Internal ID9655938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70936875..70937310hg38UCSC Ensembl
Outerchr2:71164005..71164440hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720179
Supporting Variants
SamplesSSM008
Known GenesATP6V1B1
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)essv6751442
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