A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693549



Internal ID15073500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239280419..239283217hg38UCSC Ensembl
Innerchr2:239281419..239282217hg38UCSC Ensembl
Outerchr2:239279419..239284218hg38UCSC Ensembl
chr2:240202115..240204913hg19UCSC Ensembl
Innerchr2:240203115..240203913hg19UCSC Ensembl
Outerchr2:240201115..240205913hg19UCSC Ensembl
chr2:239867052..239869850hg18UCSC Ensembl
Innerchr2:239868052..239868850hg18UCSC Ensembl
Outerchr2:239866052..239870850hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334871
Supporting Variants
SamplesNA19240
Known GenesHDAC4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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