A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738020



Internal ID9972359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143575546..143576068hg38UCSC Ensembl
Outerchr8:144657716..144658238hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6740607, essv6919619, essv6850336, essv6958322, essv6948528, essv6791294
SamplesSSM086, SSM024, SSM017, SSM052, SSM026, SSM070
Known GenesNAPRT1
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)esv2738020
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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