A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727938



Internal ID9962250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:87347099..87353182hg38UCSC Ensembl
Outerchr4:88268251..88274334hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg386084
hg196084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883870, essv6762346, essv6833370
SamplesSSM082, SSM062, SSM095
Known GenesHSD17B11
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)esv2727938
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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