A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384319



Internal ID14884599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146692984..146693003hg38UCSC Ensembl
Innerchr7:146692980..146693007hg38UCSC Ensembl
Outerchr7:146692961..146693026hg38UCSC Ensembl
chr7:146390076..146390095hg19UCSC Ensembl
Innerchr7:146390072..146390099hg19UCSC Ensembl
Outerchr7:146390053..146390118hg19UCSC Ensembl
chr7:146021009..146021028hg18UCSC Ensembl
Innerchr7:146021032..146021005hg18UCSC Ensembl
Outerchr7:146020986..146021051hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381000
hg191000
hg181000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9636703
SamplesNA12234
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384319
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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