A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866660



Internal ID9916789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1201764..1201847hg38UCSC Ensembl
Outerchr10:1247704..1247787hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729562, esv2729540, esv2729551
Supporting Variants
SamplesSSM089
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)essv6866660
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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