A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3430900



Internal ID14931170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148007298..148007317hg38UCSC Ensembl
Innerchr7:148007294..148007321hg38UCSC Ensembl
Outerchr7:148007275..148007340hg38UCSC Ensembl
chr7:147704390..147704409hg19UCSC Ensembl
Innerchr7:147704386..147704413hg19UCSC Ensembl
Outerchr7:147704367..147704432hg19UCSC Ensembl
chr7:147335323..147335342hg18UCSC Ensembl
Innerchr7:147335346..147335319hg18UCSC Ensembl
Outerchr7:147335300..147335365hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9636736
SamplesNA18970
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3430900
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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