A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729441



Internal ID10313077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1206013..1206735hg38UCSC Ensembl
Outerchr5:1206128..1206850hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38723
hg19723
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974235, essv6938705, essv6907190, essv6956508, essv6790235, essv6794380, essv6926553, essv6823743, essv6798539, essv6943042, essv6947528, essv6715235, essv6914848, essv6934386, essv6922784, essv6865231, essv6963223, essv6925584, essv6676220, essv6767288, essv6844675, essv6911030, essv6875466
SamplesSSM071, SSM027, SSM024, SSM064, SSM023, SSM092, SSM021, SSM018, SSM029, SSM026, SSM089, SSM019, SSM003, SSM014, SSM085, SSM072, SSM015, SSM016, SSM005, SSM022, SSM010, SSM070, SSM043
Known GenesSLC6A19
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)esv2729441
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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