A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679257



Internal ID13671639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38438556..38438575hg38UCSC Ensembl
Innerchr7:38438552..38438579hg38UCSC Ensembl
Outerchr7:38438533..38438598hg38UCSC Ensembl
chr7:38478156..38478175hg19UCSC Ensembl
Innerchr7:38478152..38478179hg19UCSC Ensembl
Outerchr7:38478133..38478198hg19UCSC Ensembl
chr7:38444681..38444700hg18UCSC Ensembl
Innerchr7:38444704..38444677hg18UCSC Ensembl
Outerchr7:38444658..38444723hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3444935
Supporting Variants
SamplesNA12878
Known GenesAMPH
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679257
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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