A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749231



Internal ID10330201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104807629..104807854hg38UCSC Ensembl
Outerchr14:105273966..105274191hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv280e201
Supporting Variantsessv6857729, essv6820090, essv6709768, essv6728625, essv6909188, essv6868632, essv6831628, essv6862784, essv6966336, essv6867564, essv6959848, essv6779771, essv6891549, essv6688534, essv6673707, essv6912926, essv6851730, essv6941662
SamplesSSM027, SSM046, SSM011, SSM087, SSM097, SSM088, SSM041, SSM026, SSM089, SSM035, SSM003, SSM031, SSM067, SSM014, SSM086, SSM081, SSM015, SSM078
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)esv2749231
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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