A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848165



Internal ID10009233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:236379570..236379820hg38UCSC Ensembl
Outerchr2:237288213..237288463hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721705, esv2721704
Supporting Variants
SamplesSSM011
Known GenesIQCA1
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)essv6848165
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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