A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726996



Internal ID3277492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6299290..6299836hg38UCSC Ensembl
Outerchr4:6301017..6301563hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973727, essv6810851, essv6913707, essv6840691, essv6821898, essv6825772, essv6759587, essv6860083, essv6864862, essv6956015, essv6934082, essv6777631, essv6670160, essv6689909, essv6899194, essv6770266, essv6846598, essv6693581, essv6848193, essv6736535, essv6914593
SamplesSSM010, SSM065, SSM086, SSM036, SSM084, SSM061, SSM088, SSM089, SSM031, SSM016, SSM001, SSM067, SSM050, SSM100, SSM029, SSM021, SSM002, SSM037, SSM026, SSM076, SSM080
Known GenesWFS1
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)esv2726996
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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