A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3406538



Internal ID14906814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:175633082..175633082hg38UCSC Ensembl
Innerchr4:175633081..175633083hg38UCSC Ensembl
Outerchr4:175633022..175633132hg38UCSC Ensembl
chr4:176554233..176554233hg19UCSC Ensembl
Innerchr4:176554232..176554234hg19UCSC Ensembl
Outerchr4:176554173..176554283hg19UCSC Ensembl
chr4:176791227..176791227hg18UCSC Ensembl
Innerchr4:176791228..176791226hg18UCSC Ensembl
Outerchr4:176791167..176791277hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8834933
SamplesNA19240
Known GenesGPM6A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3406538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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