A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6934915



Internal ID10043756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170170602..170170806hg38UCSC Ensembl
Outerchr6:170485826..170486030hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733576, esv2733579, esv2733578, esv2733563
Supporting Variants
SamplesSSM021
Known Genes
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)essv6934915
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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