A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718561



Internal ID10132821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:177351481..177351649hg38UCSC Ensembl
Outerchr2:178216209..178216377hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721180, esv2721179
Supporting Variants
SamplesSSM044
Known GenesLOC100130691
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)essv6718561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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