A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718748



Internal ID10302384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50752286..50764752hg38UCSC Ensembl
Outerchr19:51255543..51268009hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3812467
hg1912467
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6721716, essv6921410, essv6839692, essv6753334, essv6946177, essv6842020, essv6863650, essv6852848
SamplesSSM083, SSM088, SSM057, SSM023, SSM017, SSM044, SSM086, SSM010
Known Genes
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)esv2718748
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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