A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738485



Internal ID9972825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77170330..77170510hg38UCSC Ensembl
Outerchr10:78930088..78930268hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6724207
SamplesSSM045
Known GenesKCNMA1
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)esv2738485
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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