A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731442



Internal ID10315078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1745179..1745722hg38UCSC Ensembl
Outerchr6:1745413..1745956hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38544
hg19544
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6887252, essv6825098, essv6767426, essv6794065, essv6875611, essv6951772, essv6963564, essv6914986, essv6727721, essv6855082, essv6680300, essv6802489
SamplesSSM027, SSM064, SSM087, SSM009, SSM073, SSM092, SSM033, SSM007, SSM016, SSM010, SSM025, SSM012
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)esv2731442
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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