A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12666803



Internal ID4510636
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611813
Supporting Variants
SamplesHG04014
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12666803
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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