A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12666955



Internal ID2402890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1754230..1787747hg38UCSC Ensembl
Innerchr7:1754230..1787747hg38UCSC Ensembl
Outerchr7:1754081..1787900hg38UCSC Ensembl
chr7:1793866..1827383hg19UCSC Ensembl
Innerchr7:1793866..1827383hg19UCSC Ensembl
Outerchr7:1793717..1827536hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3833518
hg1933518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611822
Supporting Variants
SamplesHG02131
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12666955
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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