A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729964



Internal ID10313600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:25821587..25826741hg38UCSC Ensembl
Outerchr5:25821696..25826850hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg385155
hg195155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896579, essv6911077, essv6715287
SamplesSSM015, SSM099, SSM043
Known Genes
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)esv2729964
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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