A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309683



Internal ID15156634
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 StatusM
Merged Variants
Supporting Variantsessv7842447, essv7842013, essv7841418, essv7842905, essv7840792, essv7840400
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesAMPH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309683
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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