A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728141



Internal ID9962454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110593912..110594279hg38UCSC Ensembl
Outerchr4:111515068..111515435hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690048, essv6781779, essv6813944, essv6722840, essv6711447, essv6777752, essv6951466, essv6848415, essv6790075, essv6726715
SamplesSSM036, SSM045, SSM046, SSM042, SSM067, SSM086, SSM068, SSM077, SSM070, SSM025
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)esv2728141
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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