A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728905



Internal ID10312541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:185222000..185222093hg38UCSC Ensembl
Outerchr4:186143154..186143247hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865177
SamplesSSM089
Known GenesSNX25
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)esv2728905
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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