A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730339



Internal ID9964655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1602465..1602887hg38UCSC Ensembl
Outerchr10:1644660..1645082hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv81e201
Supporting Variantsessv6919775, essv6842086, essv6787372, essv6830962, essv6939948, essv6695144
SamplesSSM084, SSM069, SSM017, SSM081, SSM037, SSM022
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)esv2730339
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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