A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728935



Internal ID10312571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186292746..186293547hg38UCSC Ensembl
Outerchr4:187213900..187214701hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6938646, essv6881167, essv6823443, essv6826044, essv6686953, essv6811033, essv6790170, essv6852498
SamplesSSM011, SSM035, SSM094, SSM080, SSM076, SSM022, SSM010, SSM070
Known GenesF11-AS1
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)esv2728935
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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