A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6872676



Internal ID9922205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31242751..31319496hg38UCSC Ensembl
Outerchr6:31210528..31287273hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3876746
hg1976746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731814, esv2731815, esv2731812
Supporting Variants
SamplesSSM091
Known GenesHLA-C
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)essv6872676
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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