A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937899



Internal ID14340497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146675783..146675799hg38UCSC Ensembl
Innerchr7:146675781..146675799hg38UCSC Ensembl
Outerchr7:146675767..146675815hg38UCSC Ensembl
chr7:146372875..146372891hg19UCSC Ensembl
Innerchr7:146372873..146372891hg19UCSC Ensembl
Outerchr7:146372859..146372907hg19UCSC Ensembl
chr7:146003808..146003824hg18UCSC Ensembl
Innerchr7:146003824..146003806hg18UCSC Ensembl
Outerchr7:146003792..146003840hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396108
Supporting Variants
SamplesNA18853
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937899
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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