A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727101



Internal ID9961409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8131612..8131824hg38UCSC Ensembl
Outerchr4:8133339..8133551hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6860090, essv6777639, essv6968750, essv6962760, essv6726562, essv6785806, essv6910783, essv6880973, essv6794081, essv6840703, essv6938426, essv6833262
SamplesSSM071, SSM027, SSM046, SSM088, SSM028, SSM084, SSM069, SSM094, SSM067, SSM082, SSM015, SSM022
Known GenesABLIM2
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)esv2727101
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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