A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714602



Internal ID10126622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113979823..113979984hg38UCSC Ensembl
Outerchr2:114737400..114737561hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720558
Supporting Variants
SamplesSSM043
Known GenesLOC100499194, LOC440900
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)essv6714602
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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