A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732001



Internal ID10315637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44004300..44004701hg38UCSC Ensembl
Outerchr6:43972037..43972438hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715541, essv6969387, essv6778215, essv6794662, essv6694170, essv6923088
SamplesSSM071, SSM028, SSM018, SSM067, SSM037, SSM043
Known GenesC6orf223
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)esv2732001
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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