A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6899187



Internal ID9946059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2945905..2946060hg38UCSC Ensembl
Outerchr4:2947632..2947787hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726866, esv2726865, esv2726835
Supporting Variants
SamplesSSM100
Known GenesNOP14, NOP14-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)essv6899187
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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