A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611813



Internal ID6998716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1593280..1600574hg38UCSC Ensembl
Innerchr7:1593280..1600574hg38UCSC Ensembl
Outerchr7:1592780..1601074hg38UCSC Ensembl
chr7:1632916..1640210hg19UCSC Ensembl
Innerchr7:1632916..1640210hg19UCSC Ensembl
Outerchr7:1632416..1640710hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg387295
hg197295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12666803, essv12666802
SamplesHG01260, HG04014
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611813
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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