A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6754647



Internal ID9817279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149922276..150024804hg38UCSC Ensembl
Outerchr6:150243412..150345940hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38102529
hg19102529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732866
Supporting Variants
SamplesSSM058
Known GenesRAET1G, RAET1K, RAET1L, ULBP1, ULBP2
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)essv6754647
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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