A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749243



Internal ID10330213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104808170..104808376hg38UCSC Ensembl
Outerchr14:105274507..105274713hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685373, essv6673711, essv6678148, essv6900867, essv6857730, essv6732455, essv6820091, essv6862785, essv6779772, essv6768752, essv6932200, essv6924659, essv6809639, essv6966337, essv6835184, essv6772394
SamplesSSM100, SSM027, SSM075, SSM064, SSM065, SSM087, SSM088, SSM047, SSM018, SSM032, SSM031, SSM067, SSM082, SSM020, SSM078, SSM034
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)esv2749243
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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