A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738496



Internal ID9972836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:77170422..77170581hg38UCSC Ensembl
Outerchr10:78930180..78930339hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6695246, essv6823346
SamplesSSM037, SSM079
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)esv2738496
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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