A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729884



Internal ID10313520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1463936..1464542hg38UCSC Ensembl
Outerchr10:1506131..1506737hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958621, essv6965163, essv6882051, essv6672541, essv6923927, essv6887714, essv6935712, essv6895787, essv6771702, essv6695140, essv6687993, essv6783158, essv6755245, essv6791466
SamplesSSM027, SSM065, SSM058, SSM021, SSM018, SSM096, SSM026, SSM035, SSM094, SSM031, SSM068, SSM037, SSM070, SSM012
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)esv2729884
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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