A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728144



Internal ID9962457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110595153..110595373hg38UCSC Ensembl
Outerchr4:111516309..111516529hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865061, essv6889795, essv6848416, essv6962966, essv6973964, essv6907042, essv6704623, essv6670402, essv6700569, essv6854555, essv6899340, essv6686882, essv6825947, essv6956256, essv6708028, essv6851797, essv6817647, essv6860274
SamplesSSM100, SSM027, SSM011, SSM087, SSM097, SSM039, SSM088, SSM041, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM040, SSM078, SSM080
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)esv2728144
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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