A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414958



Internal ID14915231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15703631..15705829hg38UCSC Ensembl
Innerchr4:15704631..15704829hg38UCSC Ensembl
Outerchr4:15702631..15706829hg38UCSC Ensembl
chr4:15705254..15707452hg19UCSC Ensembl
Innerchr4:15706254..15706452hg19UCSC Ensembl
Outerchr4:15704254..15708452hg19UCSC Ensembl
chr4:15314352..15316550hg18UCSC Ensembl
Innerchr4:15315352..15315550hg18UCSC Ensembl
Outerchr4:15313352..15317550hg18UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694246
SamplesNA19239
Known GenesBST1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414958
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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