A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6788421



Internal ID9657485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227193777..227194277hg38UCSC Ensembl
Outerchr2:228058493..228058993hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721549
Supporting Variants
SamplesSSM009
Known GenesCOL4A3
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)essv6788421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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