A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396747



Internal ID14897024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130313566..130313585hg38UCSC Ensembl
Innerchr7:130313562..130313589hg38UCSC Ensembl
Outerchr7:130313543..130313608hg38UCSC Ensembl
chr7:129953406..129953425hg19UCSC Ensembl
Innerchr7:129953402..129953429hg19UCSC Ensembl
Outerchr7:129953383..129953448hg19UCSC Ensembl
chr7:129740642..129740661hg18UCSC Ensembl
Innerchr7:129740665..129740638hg18UCSC Ensembl
Outerchr7:129740619..129740684hg18UCSC Ensembl
Cytoband7q32.2
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 Variantsessv9636336, essv9636324
SamplesNA12045, NA12234
Known GenesCPA4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396747
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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