A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718397



Internal ID10302033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:28550491..28550741hg38UCSC Ensembl
Outerchr19:29041398..29041648hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682550, essv6950187, essv6746120, essv6824657, essv6874376, essv6928790, essv6753301, essv6852799, essv6721684, essv6888787, essv6946130
SamplesSSM024, SSM011, SSM079, SSM057, SSM023, SSM096, SSM019, SSM044, SSM086, SSM033, SSM007
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)esv2718397
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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