A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857707



Internal ID10255421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708665..96709791hg38UCSC Ensembl
Outerchr14:97175002..97176128hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381127
hg191127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749066, esv2749064
Supporting Variants
SamplesSSM087
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)essv6857707
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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