A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728371



Internal ID10312007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134668715..134668906hg38UCSC Ensembl
Outerchr4:135589870..135590061hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833414, essv6805105, essv6686902, essv6802273, essv6711469, essv6886683, essv6860318, essv6963014, essv6889827, essv6907077, essv6872422, essv6726744
SamplesSSM027, SSM046, SSM097, SSM073, SSM074, SSM042, SSM088, SSM096, SSM035, SSM014, SSM082, SSM091
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)esv2728371
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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