A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731497



Internal ID10315133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:3618902..3621619hg38UCSC Ensembl
Outerchr6:3619136..3621853hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382718
hg192718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6818089, essv6938891, essv6833680, essv6974624, essv6782085, essv6848973, essv6918646, essv6811211, essv6826283, essv6922957, essv6730785, essv6969260, essv6762548, essv6805326, essv6767430, essv6694060
SamplesSSM064, SSM074, SSM028, SSM047, SSM018, SSM029, SSM062, SSM017, SSM086, SSM068, SSM082, SSM078, SSM080, SSM037, SSM076, SSM022
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)esv2731497
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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