A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414177



Internal ID14914450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147877727..147877743hg38UCSC Ensembl
Innerchr7:147877729..147877741hg38UCSC Ensembl
Outerchr7:147877725..147877745hg38UCSC Ensembl
chr7:147574819..147574835hg19UCSC Ensembl
Innerchr7:147574821..147574833hg19UCSC Ensembl
Outerchr7:147574817..147574837hg19UCSC Ensembl
chr7:147205752..147205768hg18UCSC Ensembl
Innerchr7:147205754..147205766hg18UCSC Ensembl
Outerchr7:147205750..147205770hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864795
SamplesNA12005
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414177
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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