A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9616057



Internal ID14706399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70227580..70227599hg38UCSC Ensembl
Innerchr4:70227576..70227603hg38UCSC Ensembl
Outerchr4:70227557..70227622hg38UCSC Ensembl
chr4:71093297..71093316hg19UCSC Ensembl
Innerchr4:71093293..71093320hg19UCSC Ensembl
Outerchr4:71093274..71093339hg19UCSC Ensembl
chr4:71127886..71127905hg18UCSC Ensembl
Innerchr4:71127909..71127882hg18UCSC Ensembl
Outerchr4:71127863..71127928hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3386135
Supporting Variants
SamplesNA18970
Known GenesFDCSP
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9616057
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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