A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423205



Internal ID14923477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70646671..70648369hg38UCSC Ensembl
Innerchr4:70647369..70647671hg38UCSC Ensembl
Outerchr4:70645671..70649369hg38UCSC Ensembl
chr4:71512388..71514086hg19UCSC Ensembl
Innerchr4:71513086..71513388hg19UCSC Ensembl
Outerchr4:71511388..71515086hg19UCSC Ensembl
chr4:71731252..71732950hg18UCSC Ensembl
Innerchr4:71732252..71731950hg18UCSC Ensembl
Outerchr4:71730252..71733950hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694485
SamplesNA19239
Known GenesENAM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423205
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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