A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729398



Internal ID10313034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1060848..1061489hg38UCSC Ensembl
Outerchr5:1060963..1061604hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848641, essv6667390, essv6951586, essv6757188, essv6951585, essv6777885, essv6956498, essv6770506, essv6726231, essv6974225, essv6808175, essv6899439, essv6865224, essv6958229, essv6676198, essv6829893, essv6670648, essv6925551, essv6869465, essv6697706, essv6860440, essv6767282, essv6926546, essv6802341
SamplesSSM100, SSM059, SSM075, SSM064, SSM065, SSM038, SSM073, SSM088, SSM090, SSM029, SSM026, SSM089, SSM019, SSM003, SSM031, SSM067, SSM086, SSM081, SSM007, SSM005, SSM025, SSM004, SSM030
Known GenesSLC12A7
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)esv2729398
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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