A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963938



Internal ID9723775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161263092..161263169hg38UCSC Ensembl
Outerchr6:161684124..161684201hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733075, esv2733074
Supporting Variants
SamplesSSM027
Known GenesAGPAT4
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)essv6963938
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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