A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727667



Internal ID10311303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59518513..59519667hg38UCSC Ensembl
Outerchr4:60384231..60385385hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6726642, essv6922598, essv6767144, essv6817544, essv6724787, essv6707967, essv6956149, essv6693669, essv6854456, essv6918245, essv6734017, essv6707966, essv6745538, essv6962875, essv6840787, essv6785899, essv6770326, essv6757051, essv6751207, essv6860184, essv6817545, essv6956150, essv6962874, essv6774191
SamplesSSM059, SSM027, SSM046, SSM064, SSM065, SSM087, SSM088, SSM041, SSM057, SSM084, SSM018, SSM069, SSM026, SSM017, SSM066, SSM007, SSM078, SSM037, SSM055, SSM049
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)esv2727667
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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