A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727627



Internal ID10311263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:55131960..55133306hg38UCSC Ensembl
Outerchr4:55998127..55999473hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808016, essv6726637, essv6813884, essv6697570, essv6825864, essv6864971, essv6896419, essv6881033, essv6790008, essv6899267, essv6805035, essv6869321, essv6686816, essv6722789, essv6764681
SamplesSSM100, SSM075, SSM045, SSM046, SSM038, SSM074, SSM090, SSM089, SSM035, SSM094, SSM080, SSM077, SSM070, SSM099, SSM063
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)esv2727627
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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