A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430783



Internal ID15277739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:7639325..7640423hg38UCSC Ensembl
Innerchr4:7639423..7640325hg38UCSC Ensembl
Outerchr4:7638325..7641423hg38UCSC Ensembl
chr4:7641052..7642150hg19UCSC Ensembl
Innerchr4:7641150..7642052hg19UCSC Ensembl
Outerchr4:7640052..7643150hg19UCSC Ensembl
chr4:7691952..7693050hg18UCSC Ensembl
Innerchr4:7692952..7692050hg18UCSC Ensembl
Outerchr4:7690952..7694050hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2928e59
Supporting Variantsessv8694501
SamplesNA19238
Known GenesSORCS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430783
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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