A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6817093



Internal ID9875294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:178450537..178450864hg38UCSC Ensembl
Outerchr2:179315264..179315591hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721196, esv2721194
Supporting Variants
SamplesSSM078
Known GenesMIR548N, PRKRA
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)essv6817093
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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