A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364873



Internal ID15211850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:121331483..121331502hg38UCSC Ensembl
Innerchr7:121331479..121331506hg38UCSC Ensembl
Outerchr7:121331460..121331525hg38UCSC Ensembl
chr7:120971537..120971556hg19UCSC Ensembl
Innerchr7:120971533..120971560hg19UCSC Ensembl
Outerchr7:120971514..120971579hg19UCSC Ensembl
chr7:120758773..120758792hg18UCSC Ensembl
Innerchr7:120758796..120758769hg18UCSC Ensembl
Outerchr7:120758750..120758815hg18UCSC Ensembl
Cytoband7q31.31
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 Variantsessv9636069
SamplesNA11931
Known GenesWNT16
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364873
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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