A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6690329



Internal ID10106435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1897850..1898218hg38UCSC Ensembl
Outerchr6:1898084..1898452hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731447
Supporting Variants
SamplesSSM036
Known GenesGMDS
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)essv6690329
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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