A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842013



Internal ID15083701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38438569..38438570hg38UCSC Ensembl
Innerchr7:38438552..38438587hg38UCSC Ensembl
Outerchr7:38438551..38438588hg38UCSC Ensembl
chr7:38478169..38478170hg19UCSC Ensembl
Innerchr7:38478152..38478187hg19UCSC Ensembl
Outerchr7:38478151..38478188hg19UCSC Ensembl
chr7:38444694..38444695hg18UCSC Ensembl
Innerchr7:38444712..38444677hg18UCSC Ensembl
Outerchr7:38444676..38444713hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309683
Supporting Variants
SamplesNA19240
Known GenesAMPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842013
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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