A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419302



Internal ID14919574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139666753..139666772hg38UCSC Ensembl
Innerchr7:139666749..139666776hg38UCSC Ensembl
Outerchr7:139666730..139666795hg38UCSC Ensembl
chr7:139351499..139351518hg19UCSC Ensembl
Innerchr7:139351495..139351522hg19UCSC Ensembl
Outerchr7:139351476..139351541hg19UCSC Ensembl
chr7:139002039..139002058hg18UCSC Ensembl
Innerchr7:139002062..139002035hg18UCSC Ensembl
Outerchr7:139002016..139002081hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9636592
SamplesNA19143
Known GenesHIPK2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419302
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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