A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6781256



Internal ID9843056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112776370..112777091hg38UCSC Ensembl
Outerchr2:113533947..113534668hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38722
hg19722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720538, esv2720540
Supporting Variants
SamplesSSM068
Known GenesIL1A
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)essv6781256
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