A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749181



Internal ID10330151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104097733..104098167hg38UCSC Ensembl
Outerchr14:104564070..104564504hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38435
hg19435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920534, essv6842763, essv6966327, essv6936493, essv6779765, essv6772390, essv6885290, essv6857726, essv6851727, essv6862779
SamplesSSM027, SSM065, SSM087, SSM088, SSM084, SSM021, SSM017, SSM067, SSM086, SSM095
Known GenesASPG
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)esv2749181
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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