A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731417



Internal ID9965735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3457831..3458731hg38UCSC Ensembl
Outerchr10:3500023..3500923hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900360, essv6965185, essv6842097, essv6672563, essv6970400, essv6856625, essv6882056, essv6702060, essv6802920, essv6731755, essv6958645, essv6771722
SamplesSSM100, SSM027, SSM065, SSM087, SSM039, SSM009, SSM028, SSM084, SSM047, SSM026, SSM094, SSM031
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)esv2731417
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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