A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750684



Internal ID18724930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88423678..88423828hg38UCSC Ensembl
Outerchr14:88423674..88423832hg38UCSC Ensembl
Innerchr14:88890022..88890172hg19UCSC Ensembl
Outerchr14:88890018..88890176hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551937
Supporting Variants
Samples
Known GenesSPATA7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750684
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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