A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307592



Internal ID14807854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146692978..146692979hg38UCSC Ensembl
Innerchr7:146692956..146693001hg38UCSC Ensembl
Outerchr7:146692955..146693002hg38UCSC Ensembl
chr7:146390070..146390071hg19UCSC Ensembl
Innerchr7:146390048..146390093hg19UCSC Ensembl
Outerchr7:146390047..146390094hg19UCSC Ensembl
chr7:146021003..146021004hg18UCSC Ensembl
Innerchr7:146021026..146020981hg18UCSC Ensembl
Outerchr7:146020980..146021027hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38439
hg19439
hg18439
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764801
SamplesNA12234
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307592
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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