A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6683829



Internal ID9751760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88736222..88736515hg38UCSC Ensembl
Outerchr5:88032039..88032332hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730446
Supporting Variants
SamplesSSM034
Known GenesMEF2C
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)essv6683829
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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