A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729951



Internal ID10313587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1489090..1489648hg38UCSC Ensembl
Outerchr10:1531285..1531843hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862697, essv6958622, essv6768217, essv6783159, essv6948674, essv6861921, essv6771703, essv6791467, essv6716398, essv6970388, essv6845658
SamplesSSM024, SSM011, SSM064, SSM065, SSM088, SSM028, SSM026, SSM085, SSM068, SSM070, SSM043
Known GenesADARB2
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)esv2729951
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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