A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729773



Internal ID9964088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1409022..1409511hg38UCSC Ensembl
Outerchr10:1451217..1451706hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv76e201
Supporting Variantsessv6823268, essv6965159, essv6795648, essv6850577, essv6944494
SamplesSSM071, SSM027, SSM079, SSM023, SSM086
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)esv2729773
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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