A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864397



Internal ID9914754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:107898764..108515646hg38UCSC Ensembl
Outerchr2:108515220..109132102hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38616883
hg19616883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720498
Supporting Variants
SamplesSSM089
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
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)essv6864397
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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