A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9750071



Internal ID18724317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31344678..31344841hg38UCSC Ensembl
Outerchr14:31344665..31344862hg38UCSC Ensembl
Innerchr14:31813884..31814047hg19UCSC Ensembl
Outerchr14:31813871..31814068hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3551324
Supporting Variants
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9750071
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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