A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9636069



Internal ID13224389
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 StatusS
Merged Variantsesv3364873
Supporting Variants
SamplesNA11931
Known GenesWNT16
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9636069
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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