A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12938483



Internal ID544450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:118274785..118317801hg38UCSC Ensembl
Innerchr7:118274785..118317801hg38UCSC Ensembl
Outerchr7:118274285..118318301hg38UCSC Ensembl
chr7:117914839..117957855hg19UCSC Ensembl
Innerchr7:117914839..117957855hg19UCSC Ensembl
Outerchr7:117914339..117958355hg19UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg3843017
hg1943017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614732
Supporting Variants
SamplesHG00237
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12938483
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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