A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714690



Internal ID9780016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:227194002..227194177hg38UCSC Ensembl
Outerchr2:228058718..228058893hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721549, esv2721552
Supporting Variants
SamplesSSM043
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)essv6714690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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