A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730845



Internal ID9965162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:141189443..141194727hg38UCSC Ensembl
Outerchr5:140569016..140574300hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385285
hg195285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793554, essv6824743, essv6893359, essv6774471, essv6837278, essv6723084, essv6938842, essv6896647, essv6922902, essv6854210
SamplesSSM083, SSM045, SSM011, SSM009, SSM018, SSM066, SSM022, SSM010, SSM099, SSM098
Known GenesPCDHB10, PCDHB9
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)esv2730845
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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